Preferred Label : Macrosomia with microphthalmia, lethal;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Teebi et al. (1989) observed an inbred family in Kuwait in which 3 females and 2 males
from a sibship of 10 had macrosomia, severe microphthalmia, and early infant death.
Three of the affected infants had median cleft palate. All 5 affected sibs showed
respiratory infections in early life and died either unexpectedly or because of a
documented overwhelming infection. *FIELD* RF 1. Teebi, A. S.; Al-Saleh, Q. A.; Hassoon,
M. M.; Farag, T. I.; Al-Awadi, S. A.: Macrosomia, microphthalmia, /- cleft palate
and early infant death: a new autosomal recessive syndrome. Clin. Genet. 36: 174-177,
1989. *FIELD* CS Growth: Macrosomia;
Inheritance : Autosomal recessive;
Prefixed ID : 248110;
Origin ID : 248110;
UMLS CUI : C1855467;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
