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.

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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.

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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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