It is an inherited disease which is characterized by short stature, facial abnormalities, skeletal and genital anomalies. It is also known as Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia.

It is transmitted in an X-linked recessive manner.

Characteristics of this disease

• Short stature.
• Delayed adolescent growth spurt.
• Hyperactivity and attention deficit.
• Good social performance.
• Rounded face.
• Widow’s peak hair line
• Hypertelorism (wide set eyes)
• Droopy eye lids.
• Protruding navel.
• Delayed eruption of teeth.
• Short fingers and toes.
• Small broad hands and feet.
• Mild webbing between the fingers and toes.
• Single transverse simian crease in palm.
• Short neck.
• Sunken chest
• Small nose with nostrils tipped forward.
• Crease below the lower lip.
• Down slanting palpebral fissures.
• Underdeveloped mid-portion of the face.
• Top portion of ear folded.
• Incurving of 5^th finger.
• Anteverted nostrils,
• Joint laxity,
• Shawl scrotum
• Mental retardation.

Diagnosis

• Genetic testing.
• Genetic counseling.

Treatment

• Surgery is required to correct the anamolies.
• Complications: Cystic changes in brain.
• Generalized seizures.