Preferred Label : Otofacioosseous-gonadal syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Otofacioosseous-gondadal syndrome was the designation proposed by da-Silva et al.
(1997) for a seemingly new syndrome with probable autosomal recessive inheritance,
which they observed in 2 sons and possibly a daughter of first-cousin parents. The
syndrome consisted of sensorineural deafness, short stature, cryptorchidism, inguinal
hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures,
low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears,
narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age,
and congenital clubfoot. Skull x-ray demonstrated wormian bones. *FIELD* RF 1. da-Silva,
E. O.; Duarte, A. R.; Lins, T. S. S.: Oto-facio-osseous-gonadal syndrome: a new form
of syndromic deafness? Clin. Genet. 52: 51-55, 1997. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 601976;
Origin ID : 601976;
UMLS CUI : C1865988;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
