Preferred Label : Intellectual developmental disorder with optic atrophy, facial dysmorphism, microcephaly,
and short stature;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short
stature;
Description : Megarbane (2003) reported 2 male cousins, both with consanguineous parents, who presented
with severe mental retardation, microcephaly with elongated faces, seizure disorders,
short stature, hypertelorism, optic atrophy, ptosis, absent ear lobes, and thin upper
lips. A brain MRI of 1 cousin showed only slight bilateral ventricular dilatation
and small orbits. Extensive radiologic and laboratory investigations, including karyotypes,
of both cousins were normal. Clinical examination and karyotypes of both sets of parents
and clinical examinations of the collective 12 sibs were normal. Megarbane (2003)
suggested that the disorder may represent a newly recognized autosomal recessive MCA/MR
syndrome. *FIELD* RF 1. Megarbane, A.: Unknown diagnosis in two male cousins with
facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
Am. J. Med. Genet. 116A: 381-384, 2003. *FIELD* CS Isolated cases;
Inheritance : Isolated cases;
Prefixed ID : 609037;
Origin ID : 609037;
UMLS CUI : C1836915;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
