achondroplasia

Term ID

DOID:4480

Synonyms

• Achondroplastic physique
• Chondrodystrophia
• osteosclerosis congenita

Definition

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. (5)

References

• GARD:8173
• ICD10CM:Q77.4
• MESH:D000130
• NCI:C34345
• OMIM:100800
• SNOMEDCT_US_2023_03_01:268273004
• UMLS_CUI:C0001080

Ontology

Human Disease   ( DOID:4480 )