syndromic microphthalmia 6

info · Eye

A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.

Signs and symptoms

Global developmental delay
Toe syndactyly
Small scrotum
Hearing impairment
Delayed CNS myelination
Renal hypoplasia
Lambdoidal craniosynostosis
Severe muscular hypotonia
Microcornea
Hypotonia

Also known as: Bakrania-Ragge syndrome; MCOPS6; anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; microphthalmia and pituitary anomalies; microphthalmia with brain and digit anomalies