/microphthalmia, syndromic 12

microphthalmia, syndromic 12

Rare Disease

MONDO:0014229

Also Known As

RARB syndromic microphthalmiamicrophthalmia, syndromic 12microphthalmia, syndromic type 12syndromic microphthalmia caused by mutation in RARBMCOPS12microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defectssyndromic microphthalmia-12

Definition

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.