Faciodigitogenital Syndrome, Autosomal Recessive

Alternative Names

  • Aarskog-Like Syndrome
  • Kuwait Type Faciodigitogenital Syndrome
  • Teebi Naguib Al-Awadi Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

227330

Mode of Inheritance

Autosomal recessive

Description

Aarskog faciodigitogenital syndrome is a rare developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia. The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some patients may be subject to a mild neurodevelopmental delay in up to 30% of the cases.

Epidemiology in the Arab World

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Other Reports

Kuwait

Teebi et al. (1988) described five Kuwaiti children suffering from some traits of Aarskog syndrome with strange hair changes. The children, three males and two females, were all born to phenotypically normal second cousin Kuwaiti Bedouins. Subjects experienced dry coarse hypopigmented with widow's peak hair, small broad hands with mild interdigital webbing, fifth finger clinodactyly, hyperextensible joints, small feet with metatarsus varus and stubby toes, hypertelorism, and shaw-like scrotum in male subjects. Teebi et al. (1988) proposed that this family demonstrated an unknown faciodigitogenital syndrome with short stature and hair anomalies.

Later, Teebi and Al Awadi (1991) reported two Kuwaiti Bedouin sibs suffering from the Kuwait Type Faciodigitogenital syndrome in Farwania region. The sibs were found to be double first cousins to previously reported cases [Teebi et al. (1988)] and were born to phenotypically normal parents. Furthermore, three other distantly related sibships were found to have nine subjects affected and all of them could be traced to a common ancestor. The consistent features were a triangular or elongated face, telecanthus or mild hypertelorism, wide palpebral fissures without ptosis, short stubby nose with anteverted nostrils, high arched and narrow palate, long, deep philtrum, wide mouth with protruding lower lip, posteriorly rotated ears with minor ear anomalies, long neck with sloping shoulders, small, broad hands with mild interdigital webbing and fifth finger clinodactyly, hyperextensible hand joints, and shawl scrotum. Short stature was confirmed in 10 cases, while the heights of the other 6 were between the 10th and 25th percentile for age. None of the 16 cases showed physical disability or mental retardation.

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