Tag: Genetic disorder

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Ehlers-Danlos syndrome

Alternative Name : Cutis hyperelastica

Definition:
Ehlers-Danlos syndrome (EDS)  encompasses several types of inherited connective tissue disorders  that affect your connective tissues — primarily your skin, joints and blood vessel walls. Ehlers-Danlos syndrome is uncommon.

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This results in hyperelastic skin that’s fragile and bruises easily, excessive looseness of the joints, blood vessels that are easily damaged and, rarely, rupture of internal organs.

The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.

There are six major types of EDS, categorised according to signs and symptoms, and the condition can range from mild to life-threatening.

1.Hypermobility -Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Extreme flexibility is the hallmark of this type…...CLICK & SEE

2.Classical -Affects approximately 1 in 20,000 to 50,000 people. It is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement. …CLICK & SEE

3.Vascular-Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers–Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). Patients with EDS type 4 often express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen). About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.

4.Kyphoscoliosis-Is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness....CLICK & SEE

5.Arthrochalasis-Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips….CLICK & SEE

6.Dermatosparaxis -Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin….CLICK & SEE

Epidemiology:–
Ehlers–Danlos Syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Ehlers–Danlos affects both males and females of all racial and ethnic backgrounds. Initially, prevalence estimates have previously ranged from 1 in 250,000 to 1 in 500,000 people, but these estimates were soon found to be vastly inaccurate as the disorder received further study and medical professionals became more adept at accurately diagnosing EDS. The prevalence of the six types differs dramatically. The most commonly occurring type is the hypermobility type, followed by the classical type. The other types of EDS are very rare. For example, fewer than 10 infants and children with the dermatosparaxis type have been described worldwide

Symptoms:–
Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of collagen. EDS most typically affects the joints, skin, and blood vessels, the major signs and symptoms include:

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*Highly flexible fingers and toes……..
*Loose, unstable joints that are prone to: sprain, dislocation, subluxation (partial dislocation) and *hyperextension (double jointedness)
*Flat feet
*Joint pain without inflammation
*Fatigue, which can be debilitating
*High and narrow palate, resulting in dental crowding
*Vulnerability to chest and sinus infections
*Easy bruising
*Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
*Velvety-smooth skin which may be stretchy and is often translucent, with blue veins clearly visible on limbs and particularly in the hands
*Abnormal wound healing and scar formation (scars may appear like cigarette burns)
*Low muscle tone and muscle weakness
*Early onset of osteoarthritis
*Cardiac effects: Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)
*Unexplained “pins and needles” or numbness in extremities
*Difficulty regulating own body temperature, resulting in a vulnerability to the cold and heat. Many patients suffer fatigue and dizziness when exposed to hot conditions, eg. having to sit outside on a hot day
*Severe mouth ulcers. Many patients complain of having several mouth ulcers at any one time. This is believed to be due to tissue fragility and vulnerability to infection
*Food allergies and intolerances are very common
*Sensitivity to medications. Many pain medications cause Nausea and other GI tract complications. *Functional bowel disorders associated with EDS make it very difficult to find safe, effective pain management
Insensitivity to local anesthetics.
*Migraines and headaches, including postural headaches from spontaneous intracranial hypontension
*Fibromyalgia symptoms: Myalgia and arthralgia.
*Arachnodactyly

Other, less common signs and complications may include:

*Osteopenia (low bone density)
*Talipes equinovarus (club foot), especially in the Vascular type
*Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility,[9] Arnold-Chiari malformation (brain disorder)
*Functional bowel disorders (functional gastritis, irritable bowel syndrome)
*Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
*Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis
*Blue sclera
*Otosclerosis (hearing loss)
*Premature rupture of membranes during pregnancy
*Platelet aggregation failure (platelets do not clump together properly)
*Infants with hypermobile joints often appear to have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking
*Arterial/intestinal/uterine fragility or rupture
*Swan neck deformity of the fingers

Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers–Danlos syndrome have been mischaracterized as child abuse. The pain associated with this condition is a serious complication.

Causes:-
The types of Ehlers-Danlos syndrome are caused by a variety of genetic alterations (mutations), passed on from parent to child, that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues — skin, tendons, ligaments, cartilage, and organ and blood vessel walls.

These genetic mutations alter normal enzyme activity, leaving connective tissues weak and unstable.

Variety of inheritance patterns
Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you need only one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, each of your children will have a 50 percent chance of inheriting the mutation from you.

Diagnosis:–
A diagnosis can be made by clinical observation. Both DNA and biochemical studies can be used to help identify affected individuals. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis. Unfortunately, these tests are not sensitive enough to identify all individuals with EDS. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.

Differential diagnosis:
There are several disorders that have some of the characteristics of Ehlers–Danlos syndrome. For example, in cutis laxa the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled away from the body but is elastic and returns to normal when let go. In Marfan syndrome, the joints are very mobile and similar cardiovascular complications occur. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of Ehlers–Danlos syndrome. Because of these similar disorders, a correct diagnosis is very important.
Treatment:–
There is no cure for Ehlers Danlos Syndrome. The treatment is supportive. Close monitoring of the cardiovascular system, physical therapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing) may be helpful. One should avoid activities that cause the joint to lock or overextend.

Doctor may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily.

Physical therapy:
Your doctor may refer you to a physical or occupational therapist with specific exercises to strengthen your muscles without causing injury. For most people with EDS, strengthening muscles helps to stabilize joints and reduce muscle fatigue and pain. In addition, your doctor or physical therapist may recommend specific braces to help stabilize joints.

In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.

Lifestyle and home remedies:-
If you have EDS, it’s important to prevent injuries and protect your skin and joints. Here are a few things you can do to safeguard yourself.

*Avoid injury. Avoid contact sports, weightlifting and other activities that increase your risk of injury.

*Use protective gear. Toddlers and young children with severe EDS often dislocate joints and frequently fall down, especially when learning to walk. Consider using protective clothing, guards or padding to protect your child from tumbles and falls.

*Reduce the clutter. To prevent falls and injuries at home, keep walkways and doorways clear of clutter. Avoid loose rugs and electric cords, which can increase your risk of tripping and falling.

*Use assistive devices. Several devices are available to help decrease stress on your joints, such as jar openers, utensils with wide handles, long-handled combs and bath sponges.

*Use mild soaps and sunscreen. To protect easily damaged skin and to guard against premature aging, use mild soaps and wear sunscreen when you’re outside.

Coping and support:–
Coping with a lifelong illness is challenging. Depending on the severity of your symptoms, you may face challenges at home, at work and in your relationships with others.

Here are some suggestions that may help you cope with the challenges of Ehlers-Danlos syndrome:

*Increase your knowledge. Knowing more about EDS can help you take control of your condition. Find a doctor who’s experienced in the management of EDS and learn as much as you can about the type of EDS you have.

*Tell others. Explain your condition to family members, friends and your employer. Ask your employer about any accommodations that you feel will make you a more productive worker. It’s up to you how much information you divulge to your co-workers. You may want to prepare appropriate responses for people who ask questions.

*Build a support system. Cultivate relationships with family and friends who are positive and caring. It may also help to talk to an unrelated third party, such as a medical social worker, counselor or clergy member. Some people find help by joining a support group for people with EDS or people with chronic illnesses. The Ehlers-Danlos National Foundation’s Web site has information on local and regional support groups.

Helping your child cope:
If you are a parent of a child with EDS, consider these suggestions to help your child:

*Maintain normalcy. As much as possible, treat your child like normal children. Ask others — grandparents, aunts, uncles, teachers — to do the same.Be open. Allow your child to express his or her feelings about having EDS, even if it means being angry at times. Parents of children with EDS have sometimes encountered suspicions of child abuse because of frequent bruises and cuts.Make sure your child’s teachers and other caregivers know about your child’s condition. Review with them appropriate caregiving skills, particularly in the event of a fall or injury.

*Promote activity. Allow your child to participate in physical activities with appropriate boundaries. Discourage contact sports while encouraging non-weight-bearing activities, such as swimming. Your child’s doctor or physical therapist may also have recommendations.

*Find the best routine. Work with your child’s teachers and school administrators to make any necessary modifications in his or her schedule or responsibilities. These modifications may include giving your child extra time to move from class to class, providing him or her with an extra set of textbooks so that these books won’t need to be carried home, and making arrangements for assignments to be sent home when your child misses school because of his or her condition.

Prevention:–
If you have a personal or family history of Ehlers-Danlos syndrome and you’re thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of EDS that affects you and the risks it poses for your children.

In other animals:-  CLICK & SEE
Ehlers–Danlos-like syndromes have been shown to be hereditary in Himalayan cats, some domestic shorthair cats, and in certain breeds of cattle. It is seen as a sporadic condition in domestic dogs.

DSLD: Degenerative Suspensory Ligament Desmitis is a similar condition now being researched in all breeds of horses. Though it was originally notated in the Peruvian Paso and thought to be a condition of overwork and older age, the disease is being recognized in all age groups and all activity levels. It has even been noted in newborn foals. The latest research has led to the renaming of the disease after the possible systemic and hereditary components now being delineated by the University of Georgia. Equine Systemic Proteoglycan Accumulation

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome
http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706
http://www.bbc.co.uk/health/physical_health/conditions/ehlers1.shtml

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Ailmemts & Remedies Pediatric

Edward’s syndrome

Alternative Names:Trisomy 18 (T18), Trisomy E or Edwards syndrome

Definition:
Edward’s syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy, after Down Syndrome, that carries to term.

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A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18.
Trisomy 18 is caused by the presence of three – as opposed to two – copies of chromosome 18 in a fetus or infant‘s cells. The incidence of the syndrome is estimated as one in 3,000 live births. The incidence increases as the mother’s age increases.  Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death.The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000.

Edwards’ syndrome occurs in around one in 6,000 live births and around 80 per cent of those affected are female. However, the majority of babies with the syndrome die before birth.

It affects people from all cultural backgrounds and becomes more likely with increasing maternal age.

Symptoms:
The features and problems that develop in children with Edwards’ syndrome vary from child to child.

Typically, a child will have a small head with characteristic facial features including a small jaw and mouth, upturned nose, widely spaced small eyes with narrow eyelid folds and drooping of the upper eyelids, and low-set, malformed ears.

The hands may be clenched, with the second and fifth fingers overlapping the other fingers, and the thumbs may be underdeveloped or absent. Webbing of the second and third toes may also occur.

In addition to these features, all systems of the body may be affected. Structural malformations of the heart, kidneys, brain, digestive tract and genitals may be present and cause the child difficulties. For example, children with the syndrome often have trouble feeding and breathing, and experience delay in growth and development. Infections of the lungs and urinary system are also common.

Diagnosis:
At birth, if physical characteristics suggest the possibility of Edwards’ syndrome, this can be confirmed with genetic testing.

An ultrasound during pregnancy can often identify foetal abnormalities, providing the opportunity for genetic testing by amniocentesis.

Treatment:
There’s no cure for Edwards’ syndrome, but medical treatment of symptoms is provided as required.

Treatment focuses on providing good nutrition, tackling infections – which arise frequently – and helping the heart to function better.

Many babies with Edwards’ syndrome have difficulties with feeding, so food may be given via a nasogastric tube or directly into the stomach through a gastrostomy. Where limb abnormalities affect movement, physiotherapy and occupational therapy can help.

Emotional support for parents and other members of the family is vital, as babies with Edwards’ syndrome have a shortened life expectancy. Few survive beyond their first year.

Prognosis:
In England and Wales, there were 495 diagnoses of Edwards’ syndrome (trisomy 18) in 2008/2009, of which 92% were made prenatally. There were 339 terminations, 49 stillbirths/miscarriages/fetal deaths, 72 unknown outcomes, and 35 live births. Because approximately 3% of cases of Edwards’ syndrome with unknown outcomes are likely to result in a live birth, the total number of live births is estimated to be 37 (2008/09 data are provisional). Only 50% of liveborn infants live to 2 months, and only 5–10% survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of a child with Edwards syndrome during pregnancy or the neonatal period. The median lifespan is 5–15 days. One percent of children born with this syndrome live to age 10, typically in less severe cases of the mosaic Edwards syndrome. The small percentage of babies with the full Edwards syndrome who survive birth and early infancy may live to adulthood, and children with mosaic or partial forms of this trisomy may have a completely different and much more hopeful prognosis.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.ispub.com/journal/the_internet_journal_of_third_world_medicine/volume_4_number_1_53/article/edwards_syndrome_in_a_neonate_from_a_developing_country_reasons_for_concern_a_case_report.html
http://www.netdoctor.co.uk/ate/pregnancyandchildbirth/205249.html
http://www.wrongdiagnosis.com/e/edwards_syndrome/intro.htm
http://en.wikipedia.org/wiki/Edwards_syndrome
http://www.bbc.co.uk/health/physical_health/conditions/edwardssyndrome2.shtml

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Crouzon syndrome

Alternative Name :Branchial arch syndrome.

Definition:-
Crouzon syndrome is a genetic disorder of Chromosome 10.  Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

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This syndrome is named after Octave Crouzon, a French physician who first described this disorder. He noted the affected patients were a mother and her daughter, implying a genetic basis. First called “craniofacial dysostosis”, the disorder was characterized by a number of clinical features. This syndrome is caused by a mutation in the fibroblast growth factor receptor II, located on chromosome 10.

Breaking down the name, “craniofacial” refers to the skull and face, and “dysostosis” refers to malformation of bone.

Now known as Crouzon syndrome, the disease can be described by the rudimentary meanings of its former name. What occurs in the disease is that an infant’s skull and facial bones, while in development, fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures leads to different patterns of growth of the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures), oxycephaly (fusion of coronal and lambdoidal sutures), Kleeblattschaedel (premature closure of all sutures).

In the United States it is estimated to affect 1 per 60,000 live births.It is responsible for approximately 4.8% of all cases of craniosynostosis. Crouzon syndrome affects individuals of all ethnic backgrounds. It may be inherited or it may occur spontaneously.

Incidence of Crouzon syndrome is currently estimated to occur in 1 out of every 25,000 people out of the general population. There is a greater frequency in families with a history of the disorder, but that doesn’t mean that everyone in the family is affected (as referred to above).

Symptoms:-
Crouzon syndrome is usually diagnosed in infancy because of its particular face and skull deformities, which are:

•Early fusion of the bones of the skull (craniosynostosis), causing a misshapen head
•The skull problems may push the brain down (tonsillar herniation), and may obstruct the flow of cerebrospinal fluid (hydrocephalus)
•The nose and upper jaw appear sunken in because of poor bone growth in the face (midface hypoplasia)
•The eyes may appear to pop out (exophthalmos or proptosis) for the same reason (midface hypoplasia)


There may be other internal problems with the face and head such as narrow or absent ear canals, problems with the teeth and palate, and problems with the nose and sinuses. In some individuals with Crouzon syndrome (about 18%), two or more bones of the neck may be fused together.

Some individuals with the syndrome (about 5%) may also have a skin disorder called acanthosis nigricans, in which lesions of darkened, thickened skin are present.

Causes:
Associations with mutations in the genes of FGFR2 and FGFR3 have been identified as cause  of Crouzon syndrome. This FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.

The condition is inherited in an autosomal dominant way, so that each child of a person with Crouzon syndrome has a 50 per cent chance of inheriting the condition. However, in about half of all cases the syndrome has resulted from a new mutation (that is, neither parents were affected).

Like Apert syndrome, Crouzon syndrome may be more common among children born to older fathers.

Diagnosis:–
Diagnosis of Crouzon syndrome usually can occur at birth by assessing the signs and symptoms of the baby. Further analysis, including radiographs, magnetic resonance imaging (MRI) scans, genetic testing, X-rays and CT scans can be used to confirm the diagnosis of Crouzon syndrome.

Treatment:–
Like other genetic conditions, Crouzon’s cannot be ‘cured’. But with the right help and care, most children lead a relatively normal life.

Surgery is typically used to prevent the closure of sutures of the skull from damaging the brain’s development. Without surgery, blindness and mental retardation are typical outcomes. Craniofacial surgery is a discipline of plastic surgery. To move the orbits forward, plastic surgeons work with neurosurgeons to expose the skull and orbits and reshape the bone. To treat the midface deficiency, plastic surgeons can move the lower orbit and midface bones forward (this does not need neurosurgical assistance). For jaw surgery, either plastic surgeons have experience to perform these operations. It is rare to wear a custom-fitted helmet (or cranial band) for several months after surgery as that is only for single-suture “strip craniectomy” repair. Crouzon patients tend to have multiple sutures involved, most specifically bilateral coronal craniosynostoses, therefore an open operation is used rather than the strip craniectomy with helmeting.

Excessive fluid around the brain (hydrocephalus) may need to be drained by inserting a tube called a shunt. Other specialist help, for example, to treat dental, eye or ear, nose and throat problems, is often needed.

Long-term supportive treatments such as speech therapy, psychological and educational help, and genetic counselling for the family are also important in helping the child to reach their potential.

Once treated for the cranial vault symptoms, Crouzon patients generally go on to live a normal lifespan.

You may click to learn more  if you  have specific questions about Crouzon syndrome.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/crouzon2.shtml
http://en.wikipedia.org/wiki/Crouzon_syndrome
http://emedicine.medscape.com/article/942989-overview
http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm

http://emedicine.medscape.com/article/1280034-overview

http://ufacts.blogspot.com/2007/12/real-egg-head-boy.html

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Acrodysostosis

Alternative Names  :Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

Definition:
Acrodysostosis is an extremely rare  genetic disorder that is present at birth. It is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, mental deficiency in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back i.e. [[ ]]), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, Intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

click & see the pictures

Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with older parental age.

Symptoms:
•Growth problems, short arms and legs
•Frequent middle ear infections
•Hearing problems
•Unusual looking face
•Mental deficiency

People with acrodysostosis have certain bones that mature rapidly, before they’ve had enough time to grow fully. The bones most often affected are those of the nose and jaw, and the long tubular bones of the hands and feet.

This abnormal bone development results in a collection of characteristic features, including a typical facial appearance (short nose, open mouth and prominent jaw), small hands and feet.

Those with acrodysostosis often have some degree of mental retardation and learning difficulties.

Causes:
The gene responsible for acrodysostosis has not yet been identified and the condition may result from different genetic problems rather than one specific condition.

Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child.

It appears to be inherited in an autosomal dominant fashion. This means that if one parent is carrying the gene, they will be normal but there is a one in two chance that any child of theirs will have the condition and seems to be more common among older parents.

There is a slightly greater risk with fathers who are older.

Diagnosis:
Exams and Tests
A physical exam confirms this disorder.

click & see the pictures

Findings may include:

•Advanced bone age
•Bone deformities in hands and feet
•Delays in growth
•Problems with the skin, genitals, teeth, and skeleton
•Short arms and legs with small hands and feet
•Short head, measured front to back (brachycephaly)
•Short height
•Small, upturned broad nose with flat bridge
•Unusual features of the face (short nose, open mouth, jaw that sticks out)
•Unusual head
•Wide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eye
In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:

•Abnormally short fingers and toes (brachydactyly)
•Early growth of bones in the hands and feet
•Short bones
•Shortening of the forearm bones near the wrist

Treatment:
There’s no cure for acrodysostosis but appropriate support by orthopaedic surgeons and paediatricians is important.

Treatment depends on the physical and mental problems that occur.

Antenatal diagnosis may be made by ultrasound examination of the bones in babies whose mother has the condition, but routine screening isn’t done.

Possible Complications:
•Arthritis
•Carpal tunnel syndrome
•Worsening range of movement in the spine, elbows, and hands

Prognosis ;
Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm
http://www.bbc.co.uk/health/physical_health/conditions/acrodysostosis1.shtml
http://en.wikipedia.org/wiki/Acrodysostosis

http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1098

http://health.allrefer.com/health/acrodysostosis-info.html

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Achondroplasia

Definition:
Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 25,000 live births. Achondroplasia is the most common type of dwarfism, in which the child’s arms and legs are short in proportion to body length. Further, the head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).

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When a baby is developing in the womb, the skeleton first forms out of cartilage, which then this develops into bone (except in certain areas such as the nose or ears where cartilage remains).

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In achondroplasia, this process doesn’t happen as it should, especially in the long bones of the arms and legs. Instead, the cartilage cells in the growth plates turn only very slowly into bone.


Symptoms:
The following are the most common symptoms of achondroplasia. However, each child may experience symptoms differently. Symptoms may include:

*shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs

*large head size with prominent forehead and a flattened nasal bridge

*crowded or misaligned teeth

*curved lower spine – a condition also called lordosis (or “sway-back”) which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.

*small vertebral canals (back bones) – may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.

*bowed lower legs

*flat feet that are short and broad

*extra space between the middle and ring fingers (Also called a trident hand.)

*poor muscle tone and loose joints

*frequent middle ear infections which may lead to hearing loss

*normal intelligence

*delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)

These bone abnormalities can lead to a range of health problems, as well as psychological trauma caused by the stigma of looking different from the crowd. Most children with achondroplasia have normal intelligence.

Babies with achondroplasia may have poor muscle tone and be slow to stand and walk. Spinal problems can develop, and the lower part of the legs may become bowed. There may be dental problems because teeth are often crowded and poorly aligned. Middle ear infections occur frequently and can cause mild to moderate hearing loss.

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Causes:
Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected. Dominant means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait. So, in some cases, the child inherits the achondroplasia from a parent with achondroplasia. The majority of achondroplasia cases (80 percent), however, are the result of a new mutation in the family – the parents are of average height and do not have the abnormal gene.

As mentioned, persons with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia, with each pregnancy, there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.

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Geneticists have found that fathers who are older than 45 have a higher chance of having children with certain autosomal dominant conditions such as achondroplasia, but no cause for the new mutations in sperm has been discovered at this time.

The gene responsible for achondroplasia was discovered in 1994 making accurate prenatal diagnosis available, in most cases.

There are two other syndromes with a genetic basis similar to achondroplasia: hypochondroplasia and thanatophoric dysplasia.

In approximately 75 per cent of cases the problem results from a new mutation of a gene (that is, neither parent carries the faulty gene), but in some cases a child inherits achondroplasia from a parent who also has the condition. There is also a link with older fathers, over the age of 40.

Diagnosis:
Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with achondroplasia.A DNA test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited, a lethal condition leading to stillbirths.
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Radiologic findings:
A skeletal survey is useful to confirm the diagnosis of achondroplasia. The skull is large, with a narrow foramen magnum, and relatively small skull base. The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed spinal canal. The iliac wings are small and squared,[4] with a narrow sciatic notch and horizontal acetabular roof. The tubular bones are short and thick with metaphyseal cupping and flaring and irregular growth plates. Fibular overgrowth is present. The hand is broad with short metacarpals and phalanges, and a trident configuration. The ribs are short with cupped anterior ends. If the radiographic features are not classic, a search for a different diagnosis should be entertained. Because of the extremely deformed bone structure, people with achondroplasia are often double jointed.

The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended.

Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.


Treatment :
Currently, there is no way to prevent or treat achondroplasia, since the majority of cases result from unexpected new mutations. Treatment with growth hormone does not substantially affect the height of an individual with achondroplasia. Leg-lengthening surgeries may be considered in some very specialized cases.

Detection of bone abnormalities, particularly in the back, are important to prevent breathing difficulties and leg pain or loss of function. Kyphosis (or hunch-back) may need to be surgically corrected if it does not disappear when the child begins walking. Surgery may also help bowing of the legs. Ear infections need to be treated immediately to avoid the risk of hearing loss. Dental problems may need to be addressed by an orthodontist (dentist with special training in the alignment of teeth).

There is research into the family of genes called fibroblast growth factors, in which the gene that causes achondroplasia is included. The goal is to understand how the faulty gene causes the features seen in achondroplasia, in order to lead to improved treatment. These genes have been linked to many heritable skeletal disorders.

However, if desired, the controversial surgery of limb-lengthening will lengthen the legs and arms of someone with achondroplasia.

Usually, the best results appear within the first and second year of therapy.  After the second year of GH therapy, beneficial bone growth decreases. Therefore, GH therapy is not a satisfactory long term treatment.

Prognosis:
People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months.

Complications:
* Clubbed feet
* Fluid build up in the brain (hydrocephalus)

Epidemiology:
Achondroplasia and is one of several congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births.  However, another study at the same time found a rate of 1 per 10,000.


Prevention:
Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

* Reviewed last on: 11/2/2009
* Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.yalemedicalgroup.org/stw/Page.asp?PageID=STW026342
http://en.wikipedia.org/wiki/Achondroplasia
http://www.bbc.co.uk/health/physical_health/conditions/achondroplasia1.shtml
http://www.umm.edu/ency/article/001577all.htm

http://wikis.lib.ncsu.edu/index.php/Group_6_HYALOS_(hyaline_cartilage)

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