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Autosomal recessive facio-digito-genital syndrome

Orpha number ORPHA1974
Synonym(s) Aarskog-like syndrome
Facio-digito-genital syndrome, Kuwait type
Teebi-Naguib-Alawadi syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe.

Dysmorphic features include triangular or elongated face, hypertelorism, wide palpebral fissures, short, stubby nose with anteverted nostrils, long philtrum and ear anomalies. The hands are small, broad with mild interdigital webbing, 5th finger clinodactyly and lax joints. In one sibship, affected patients had coarse, dry, and hypopigmented hair. The affected patients had no intellectual deficit.

In this tribe, the condition is transmitted as an autosomal recessive trait.


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