Preferred Label : Microcephaly-cardiomyopathy;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : In a brother and sister of Afrikaner stock, Winship et al. (1991) observed severe
microcephaly with mental retardation and dilated cardiomyopathy developing in infancy
and later resolving completely. Both had bilateral fifth finger clinodactyly and sandal
gaps on both feet. Kennedy et al. (1999) reported a 9-year-old Canadian girl with
features similar to those of the sibs in the report of Winship et al. (1991). She
was born to nonconsanguineous parents following an uncomplicated pregnancy. The neonatal
period was complicated by seizures and cardiac failure secondary to a ventricular
septal defect. Early development was globally delayed. Dilated cardiomyopathy was
first noted at 3 years of age, but had completely resolved by 7 years of age. At 9
years of age the patient had a sloping, short forehead, downslanting palpebral fissures,
a narrow palate, and crowded teeth. Hands were normal but the halluces were long,
and there was a large gap between first and second toes. Her expressive language was
poor, but her parents reported that her receptive skills were better. Behavioral problems
included inability to sleep and obsessive picking of sores. High-resolution karyotyping
to examine regions 15q11-q13 and 22q11, and FISH analysis for 17q11.2 deletion, were
normal. *FIELD* RF 1. Kennedy, S. J.; Lee, K.-J.; McCrindle, B. W.; Teebi, A. S.:
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. J. Med. Genet.
36: 854-855, 1999. 2. Winship, I. M.; Viljoen, D. L.; Leary, P. M.; De Moor, M. M.:
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? J. Med. Genet. 28:
619-621, 1991. *FIELD* CS;
Inheritance : Autosomal recessive;
Prefixed ID : 251220;
Origin ID : 251220;
UMLS CUI : C1855080;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
