Conditions / Genetic
microcephalic osteodysplastic primordial dwarfism type II
info · Genetic · ICD-10: Q87.1
An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterin
An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
Signs and symptoms
- Tibial bowing
- Narrow pelvis bone
- Ulnar bowing
- Cafe-au-lait spot
- Coxa vara
- Postnatal growth retardation
- Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
- Retrognathia
- Intellectual disability
- Microcephaly
Also known as: Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II