Term Name:	microcephaly, short stature, and limb abnormalities
Synonyms:	DONSON-related microcephaly-short stature-limb abnormalities spectrum
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.
Ontology:	Human Disease [DOID:0081431]   ( DOID:0081431 )