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
- Faciodigitogenital Syndrome
- Faciogenital Dysplasia
- 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