Preferred Label : Alopecia-epilepsy-oligophrenia syndrome of moynahan;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Moynahan alopecia syndrome;
Description : In the family reported by Moynahan (1962), 2 brothers were affected. The alopecia
consisted of a delay in the growth of hair. The father of the boys had been bald until
age 2 and a maternal aunt until age 4. Mosavy (1975) observed 4 affected sibs and
Pfeiffer and Volklein (1982) reported affected brother and sister. Wessel et al. (1987)
reported 3 sibs with alopecia, seizures, and mental retardation. In a family derived
from Bangladesh, van Haeringen et al. (1990) described a father and 3 children (of
7) with microcephaly, sparse hair, mild to moderate mental retardation, and, in the
2 affected boys, generalized seizures. The affected father was related to his wife,
so this may be an instance of pseudodominance of a recessive disorder. It is difficult
to distinguish this disorder from that described in entry 203650. *FIELD* RF 1. Mosavy,
S. H.: Universal alopecia and microcephaly in 4 siblings. S. Afr. Med. J. 49: 172
only, 1975. 2. Moynahan, E. J.: Familial congenital alopecia, epilepsy, mental retardation
with unusual electroencephalograms. Proc. Roy. Soc. Med. 55: 411-412, 1962. 3. Pfeiffer,
R. A.; Volklein, J.: Congenital universal alopecia, mental deficiency, and microcephaly
in two sibs. J. Med. Genet. 19: 388-389, 1982. 4. van Haeringen, A.; Hurst, J. A.;
Savidge, R.; Baraitser, M.: A familial syndrome of microcephaly, sparse hair, mental
retardation, and seizures. J. Med. Genet. 27: 127-129, 1990. 5. Wessel, H. B.; Barmada,
M. A.; Hashida, Y.: Congenital alopecia, seizures, and psychomotor retardation in
three siblings. Pediat. Neurol. 3: 101-107, 1987. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 203600;
Origin ID : 203600;
UMLS CUI : C0265328;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
