Conditions / Musculoskeletal
acromicric dysplasia
info · Musculoskeletal
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shorten
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.
Signs and symptoms
- Severe short stature
- Short long bone
- Short palm
- Long philtrum
- Short foot
- Deep philtrum
- Anteverted nares
- Delayed skeletal maturation
- Ovoid vertebral bodies
- Narrow mouth
Also known as: ACMICD; acromicric skeletal dysplasia