microcephaly, short stature, and limb abnormalities

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 mu

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.

Signs and symptoms

• Microcephaly
• Short stature
• Mild intellectual disability
• Global developmental delay
• Intrauterine growth retardation
• Clinodactyly of the 5th finger
• Delayed skeletal maturation
• Convex nasal ridge
• Upslanted palpebral fissure
• Short metacarpal

Also known as: DONSON-related microcephaly-short stature-limb abnormalities spectrum