COACH Syndrome
MeSH: C536430ORPHA: 1454
Overview
a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with COACH Syndrome, sourced from HPO and Orphanet clinical annotations.
Multicystic kidney dysplasiaInguinal herniaRenal insufficiencyNephropathyOrofacial cleftHydrocephalusMacrocephalyLong faceLow-set earsProminent nasal bridgeAnteverted naresStrabismusVisual impairmentPtosisChorioretinal colobomaOptic disc colobomaIris colobomaNystagmusOculomotor apraxiaAbnormality of the hypothalamus-pituitary axisPostaxial hand polydactylySeizureAtaxiaHypotoniaGait disturbanceCerebellar vermis hypoplasiaTremorHyperreflexiaCirrhosisPortal hypertensionSplenomegalyOccipital encephaloceleApneaHepatomegalyAbnormality of neuronal migrationModerate intellectual disabilityHighly arched eyebrowCongenital hepatic fibrosisScoliosisAbnormal pattern of respirationNeoplasm of the liverElevated circulating hepatic transaminase concentrationBiparietal narrowingIntrahepatic biliary atresiaAplasia/Hypoplasia of the cerebellumAplasia/Hypoplasia of the corpus callosumFeeding difficulties in infancyChronic hepatic failure
Classification & Codes
MeSH Code
C536430Orphanet Code
ORPHA:1454COACH Syndrome
| MeSH | C536430 |
| Orphanet | ORPHA:1454 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO