microcephaly-micromelia syndrome

A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q

A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder.

Signs and symptoms

• Microcephaly
• Micromelia
• Pulmonary hypoplasia
• Narrow mouth
• Short palpebral fissure
• Forearm undergrowth
• Narrow chest
• Cystic hygroma
• Oligohydramnios
• Aqueductal stenosis