Preferred Label : Craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube
defects, and growth and developmental retardation;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Siegel-Bartlet et al. (2002) reported 2 female sibs with congenital heart defects:
one with atrial and ventricular septal defects, which were surgically repaired, and
the other with a ventricular septal defect that closed spontaneously. Both sibs also
had a sacral neural tube defect with tethered cord requiring surgical repair. Other
common features included bilateral hyperopia, rapid onset of cataracts, aphakic glaucoma,
and abnormal facial features with low anterior hairline, short philtrum with full
lips, prominent widely spaced central incisors, and micrognathia. There was generalized
growth and developmental delay. Siegel-Bartlet et al. (2002) distinguished the disorder
from Kousseff syndrome (see 188400) by the presence of cataracts. They suggested that
the apparently autosomal recessive MCA/MR disorder in their family might be caused
by a metabolic derangement. *FIELD* RF 1. Siegel-Bartlet, J.; Levin, A.; Teebi, A.
S.; Kennedy, S. J.: Craniofacial anomalies, cataracts, congenital heart disease, sacral
neural tube defects, and growth and developmental retardation in two sisters: a new
autosomal recessive MCA/MR syndrome? (Letter) J. Med. Genet. 39: 145-152, 2002. *FIELD*
CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 608227;
Origin ID : 608227;
UMLS CUI : C1842363;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
