Aarskog-Scott syndrome

Aarskog syndrome or facio-digito-genital dysplasia is a rare X-linked condition associated with typical facial and digital features and shawl scrotum. The facial features include widow's peak, hypertelorism, upturned nose and curved linear groove below lower lip. Hands and feet are short and broad. Interdigital webbing and clinodactyly may be present. The swan neck deformity of fingers due to hyperextension of proximal interphalangeal joints and flexion at distal interphalangeal joints are characteristic. The other features which may be present include cryptorchidism, downward slant of eyes, maxillary hypoplasia, cup-shaped ears, ptosis and in childhood, edema of limbs. Shawl scrotum in children with short stature is characteristic of Aarskog syndrome but may not be seen in 20% cases. The cases are diagnosed because of short stature or mental retardation. Initially height is less than third percentile but usually catches up at puberty. A study has shown positive effect of growth hormone treatment on growth and adult height. About 30 % of cases may have mental retardation, which usually is mild. The social integration of these patients and their life as adults are satisfactory. Sexual development is normal but may be delayed. Fertility is reported. The facial features become less obvious with age. Intrafamilial variability can be observed. The syndrome is caused by mutation in the FGD1 gene (faciogenital dysplasia type 1) that is mapped to Xp11.21. The mutation in this gene has been also found to cause mental retardation without other features of Aarskog syndrome. Occasional families suggestive of autosomal inheritance are also reported. Author: Dr S. Phadke (March 2003).

Clinical signs

Brachydactyly
Broad foot
Delayed bone age
Everted lower lip
Shawl scrotum
Short stature/dwarfism
Short/small nose
Ulna deviation of fingers
X-linked recessive inheritance
Anteverted nares
Broad forehead
Clinodactyly of fifth finger
High nasal bridge
Hyperextensible joints
Hypertelorism
Inguinal hernia
Long philtrum
Lymphoedema/oedema
Mental retardation(mild)
Pectus excavatum
Ptosis
Short foot/brachydactyly of toes
Simian crease
Syndactyly of fingers
Undescended/ectopic testes
Cleft lip lateral
Cleft palate
Congenital cardiac anomaly
Megalocornea

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Re: Aarskog-Scott syndrome

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