Preferred Label : Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearingloss;
Obsolete resource : true;
Moved to : 211380;
Description : Balci et al. (1998) described a seemingly distinct syndrome in 2 offspring of double-first-cousin
parents. A 17-year-old male had hypertelorism, saddle nose deformity with a midline
nasal cleft, a thick philtrum, and prominent lips. He also exhibited mandibular prognathism
and bilateral coloboma of the upper lids and midfacial hypoplasia, as well as pectus
carinatum and hypospadias. Bilateral mixed-type hearing loss was demonstrated. A younger
brother, aged 11 years, had similar, although milder, clinical features. *FIELD* RF
1. Balci, S.; Kayikcioglu, A.; Dagli, A.: Two brothers with hypospadias, hypertelorism,
upper lid coloboma and mixed type hearing loss: a new syndrome. (Letter) Clin. Genet.
54: 440-442, 1998. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 603463;
Origin ID : 603463;
UMLS CUI : C1863870;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
