syndromic microphthalmia 12

A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.

Signs and symptoms

• Bicornuate uterus
• Congenital diaphragmatic hernia
• Intellectual disability
• Pulmonary hypoplasia
• Wide nasal bridge
• Ventricular septal defect
• Anophthalmia
• Microphthalmia
• Broad nasal tip
• Retrognathia

Also known as: MCOPS12; microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects