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Aarskog syndrome - Causes, Symptom, Cure, Treatment of Aarskog syndrome

What is Aarskog syndrome?

Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. This is a common disorder mainly seen in males.

Synonyms of Aarskog syndrome

AAS
Faciodigitogenital Syndrome
Faciogenital Dysplasia
FGDY
Aarskog-Scott Syndrome

Causes of Aarskog syndrome

Aarskog syndrome disorder is caused by mutations in a gene called FGDY1 found on the X chromosome.

Symptoms of Aarskog syndrome

delayed eruption of teeth
top portion of the ear folded over slightly
small, broad hands and feet with short fingers and in-curving 5th finger
short fingers and toes with mild webbing
simian crease (single) in palm of hand
hairline has a "widow's peak"
wide set eyes with droopy eyelids
small nose with nostrils tipped forward
underdeveloped mid-portion of the face
wide groove above the upper lip, crease below the lower lip

Treatment and Cure of Aarskog syndrome

Orthodontic treatment may be attempted for some of the facial abnormalities in Aarskog syndrome. Trials of growth hormone have not been much effective to treat short stature in this disorder.

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