Conditions / Genetic
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
info · Genetic
An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2
An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.
Signs and symptoms
- Flared metaphysis
- Thin vermilion border
- Short stature
- Short middle phalanx of the 5th finger
- Short 5th metacarpal
- Metaphyseal dysplasia
- Premature loss of teeth
- Platyspondyly
- Hypoplasia of the maxilla
- Short middle phalanx of the 2nd finger
Also known as: metaphyseal dysplasia maxillary hypoplasia brachydactyly; metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly