Microphthalmia, syndromic 12

Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.

Also known as: RARB syndromic microphthalmia, microphthalmia, syndromic 12, microphthalmia, syndromic type 12, syndromic microphthalmia caused by mutation in RARB, MCOPS12, microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects, syndromic microphthalmia-12

0 clinical trials for this condition and its sub-types, 0 tagged with Microphthalmia, syndromic 12 itself.