microcephaly, short stature, and limb abnormalities (DOID:0081431)
Alliance: disease page
Synonyms: DONSON-related microcephaly-short stature-limb abnormalities spectrum
Alt IDs: OMIM:617604, ORDO:572761
Definition: An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death.