Microcephalic primordial dwarfism Toriello type

Alternate names[edit | edit source]

Microcephalic primordial dwarfism and cataracts

Definition[edit | edit source]

A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.

NIH genetic and rare disease info[edit source]

NIH info on Microcephalic primordial dwarfism Toriello type

Microcephalic primordial dwarfism Toriello type is a rare disease.

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Rare diseases - Microcephalic primordial dwarfism Toriello type
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Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine