microphthalmia with limb anomalies

A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene

A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.

Signs and symptoms

• Failure to thrive
• Anophthalmia
• Foot oligodactyly
• Single transverse palmar crease
• 4-5 metacarpal synostosis
• Global developmental delay
• Sandal gap
• Tibial bowing
• Fibular hypoplasia
• Toe syndactyly

Also known as: MLA; OAS; Waardenburg anophthalmia syndrome; anophthalmia-syndactyly syndrome; ophthalmoacromelic syndrome