Conditions / Musculoskeletal
achondroplasia
info · Musculoskeletal · ICD-10: Q77.4
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
Signs and symptoms
- Flared metaphysis
- Femoral bowing
- Pulmonary hypoplasia
- Rhizomelia
- Severe platyspondyly
- Thoracic hypoplasia
- Narrow greater sciatic notch
- Short femur
- Ulnar bowing
- Trident hand
Medications that may treat it
Also known as: Achondroplastic physique; Chondrodystrophia; osteosclerosis congenita