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Microcephalic osteodysplastic primordial dwarfism type II
rareA form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
- Identifiers
- MONDO:0008872 OMIM:210720Orphanet:2637
- Causal genes
- PCNT
- Part of
- Mendelian neurodevelopmental disorderMicrocephalic osteodysplastic primordial dwarfismOsteochondrodysplasiaPrimordial dwarfism and slender bone disorder
- Also known as
- Majewski osteodysplastic primordial dwarfism type II · microcephalic osteodysplastic primordial dwarfism type 2 · microcephalic osteodysplastic primordial dwarfism with tooth abnormalities · microcephalic osteodysplastic primordial dwarfism, type II · MOPD II
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