microcephaly, short stature, and limb abnormalities

Term ID

DOID:0081431

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. https://pubmed.ncbi.nlm.nih.gov/28191891/

References

• MIM:617604
• ORDO:572761

Ontology

Human Disease   ( DOID:0081431 )