Preferred Label : Encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly,
and retinal degeneration;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Billard et al. (1989) described apparently monozygotic twins (their patients 13 and
14) who suffered from mild and nonprogressive mental retardation without motor deficit
or visual disorders, but with moderate dysmorphia, craniosynostosis, and small stature
due to growth hormone deficiency. CT scan showed dense calcifications of the inner
aspects of the lenticular nuclei and ventricular dilatation. Bonnemann et al. (1991)
described 2 sibs with an encephalopathy, including intracerebral calcification and
white matter lesions, dwarfism owing to growth hormone deficiency, and retinal degeneration.
The onset of the disease in both sisters occurred with retardation of motor development
during the first year of life. Later, dwarfism, mental retardation, spasticity, ataxia,
and retinal degeneration became apparent. Differentiation from Cockayne syndrome (see
216400) is essential. *FIELD* RF 1. Billard, C.; Dulac, O.; Boulouche, J.; Echenne,
B.; Lebon, P.; Motte, J.; Robain, O.; Santini, J. J.: Encephalopathy with calcifications
of the basal ganglia in children: a reappraisal of Fahr's syndrome with respect to
14 new cases. Neuropediatrics 20: 12-19, 1989. 2. Bonnemann, C. G.; Meinecke, P.;
Reich, H.: Encephalopathy with intracerebral calcification, white matter lesions,
growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming
a probably distinct entity. J. Med. Genet. 28: 708-711, 1991. *FIELD* CS Growth: Small
stature; Dwarfism Neuro: Mild and nonprogressive mental retardation; Spasticity; Ataxia;
Inheritance : Autosomal recessive;
Prefixed ID : 225755;
Origin ID : 225755;
UMLS CUI : C1856973;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
