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A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.
Features include very common findings: Oculomotor apraxia, Ataxia, Low muscle tone (hypotonia), and Cerebellar vermis hypoplasia and others; and common findings: Kidney disease (nephropathy), Long face, Visual impairment, and Chorioretinal coloboma and others. 48 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 9 | Liver scarring (cirrhosis) (cirrhosis), Enlarged spleen (splenomegaly), Enlarged liver (hepatomegaly) |
Phenotype severity distribution: 12 very common features, 11 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for COACH syndrome.
2 publications have been identified in PubMed for COACH syndrome. Kisho has analyzed 1 by research type. Research spans Case Report / Case Series (100%).
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *Journal of medical case reports*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about COACH syndrome
Brain and nerves | 7 | Hydrocephalus, Seizure, Ataxia |
Eyes | 6 | Strabismus, Visual impairment, Ptosis |
Kidneys and urinary system | 3 | Multicystic kidney dysplasia, Reduced kidney function (renal insufficiency), Kidney disease (nephropathy) |
Head and neck | 3 | Orofacial cleft, Macrocephaly, Long face |
Hormones | 1 | Abnormality of the hypothalamus-pituitary axis |
Arms and legs | 1 | Postaxial hand polydactyly |
Muscles | 1 | Low muscle tone (hypotonia) |
Heart and blood vessels | 1 | Portal hypertension |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
Lungs and breathing | 1 | Apnea |
Pregnancy and birth | 1 | Congenital hepatic fibrosis |
Bones and joints | 1 | Sideways curvature of the spine (scoliosis) |
Lab test results | 1 | Elevated circulating hepatic transaminase concentration |
Age of onset: infancy, at birth.