How to deal with Aarskog Syndrome

Aarskog syndrome (Aarskog-Scott syndrome) is a rare inherited condition described in 1970 by Dr D Aarskog and Dr CI Scott in 1971. It is a development disorder characterised by short stature with facial, genital and skeletal anomalies. The condition affects mainly males, although females may have milder features.

Aarskog syndrome is an inherited disease. The Aarskog-Scott syndrome is a disorder with brief height, hypertelorism, downslanting palpebral fissures, anteverted nostrils, multilateral laxity, shawl scrotum, and psychological retardation. The physical phenotype varies with age and postpuberal males may get simply insignificant remnant manifestations of the prepuberal phenotype. It is a X-linked recessive hereditary disorder, thus, mainly males are affected, although females may get a milder expression of some of the features. The Aarskog syndrome is too known as the Aarskog-Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia. It is caused by mutations in a gene called “faciogenital dysplasia” establish on the X chromosome.

Aarskog syndrome is associated with :

  • a characteristic facial appearance, which may include a rounded face
  • a ‘widow’s peak’ hairline
  • Hypertelorism and Ptosis (wide set eyes with ‘drooping eyelids’)
  • Palpebral Fissures (large downward slanted eyes)
  • a shawl scrotum (the pouch containing the testes enclosing the base of the penis)
  • possible undescended testes and inguinal hernias
  • short stature that may not be obvious until the child is between one to three years old
  • some tissue webbing between fingers, joint hypermobility, abnormal shortness of fingers and toes and a single crease across the palm of the hands
  • hyperflexible joints.

A risk factor is something that increases your chance of getting a disease or condition. This disorder mainly affects males. Aarskog syndrome cannot be cured but there may be surgical procedures and physiotherapy available for specific features of the syndrome. Diagnosis is based on the recognition of the distinctive pattern of craniofacial anomalies, disproportionate short stature, characteristic urogenital anomalies and shortening of the distal extremities. X-rays can reveal other distinctive abnormalities. The facial dysmorphic features are subtle but together give a characteristic appearance. Shawl scrotum without hypoplastic genitalia in a child with short stature is quite diagnostic of Aarskog syndrome but may be absent in 20% of cases and the appearance is lost in postpubertal boys.

There is no guaranteed prevention. Prenatal testing may be available in cases where a relative has a known mutation. 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. 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. Development is normal but may be delayed. Supportive treatment generally includes educational assistance to those afflicted with mental deficiencies. Parents often need advice and supportive treatment.

Aarskog syndrome is among the hereditary disorders with identifiable patterns of physiological findings and is confused with few others. Mild degrees of mental slowness may be present, but affected children usually have good social skills. The affected child has generally good health and developmental landmarks are within normal limits. In some cases, moderately impaired intelligence or early delay in motor performance, or both. Slow maturation from 3 years on.Some males may exhibit reduced fertility. Some recent findings have included cystic changes in the brain and generalized seizures. There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.


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