Conditions / Syndrome
cartilage-hair hypoplasia
info · Syndrome
An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
Signs and symptoms
- Joint hypermobility
- Fair hair
- Sparse hair
- Limited elbow extension
- Lumbar hyperlordosis
- Anemia
- Coxa vara
- Recurrent infections
- Metaphyseal widening
- Femoral bowing
Also known as: CHH; McKusick type metaphyseal chondrodysplasia; Metaphyseal chondrodysplasia, McKusick type