Preferred Label : Faciothoracogenital syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Wilf-Miron and Goodman (1987) described a Moslem Arab male infant, with healthy first-cousin
parents, who had a seemingly 'new' congenital malformation syndrome that mainly involved
the face, thorax, and genitalia. Facial features were microphthalmia, anteverted nares,
long, flat philtrum, thin upper lip, and micrognathia. Pectus excavatum and widely
spaced nipples were the thoracic features. The genitalia showed a saddle-bag configuration
of the scrotum with a prominent scrotal raphe and mild glanular hypospadias. The thumbs
and great toes were somewhat wide, and the nails, particularly those of the toes,
were hypoplastic. A prominent crease was found on the ventral surface of the foot.
Some of the features suggested Aarskog syndrome (305400) and others suggested the
Smith-Lemli-Opitz syndrome (270400). *FIELD* RF 1. Wilf-Miron, R.; Goodman, R. M.:
Facio-thoraco-genital syndrome: a newly recognized birth defect syndrome. J. Craniofac.
Genet. Dev. Biol. 7: 19-22, 1987. *FIELD* CS;
Inheritance : Autosomal recessive;
Prefixed ID : 227320;
Origin ID : 227320;
UMLS CUI : C2931184;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
