Ritscher-Schinzel syndrome 1
ORPHA: 7
Overview
Ritscher-Schinzel syndrome that has material basis in homozygous mutation in the KIAA0196 gene on chromosome 8q24
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 Ritscher-Schinzel syndrome 1, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaHypospadiasHydronephrosisCleft palateOrofacial cleftAbnormal cranial suture/fontanelle morphologyHydrocephalusMacrocephalyProminent occiputHypertelorismFacial hemangiomaMicrognathiaLow-set earsPreauricular skin tagWide nasal bridgeShort neckDownslanted palpebral fissuresGlaucomaChorioretinal colobomaIris colobomaOptic atrophyAdrenal hypoplasiaMissing ribsBrachydactylyHand polydactylySingle umbilical arteryIntellectual disabilityHypotoniaGlobal developmental delayDandy-Walker malformationVentricular septal defectAtrial septal defectAbnormal mitral valve morphologyTetralogy of FallotPulmonic stenosisAortic valve stenosisAbnormal tricuspid valve morphologyHypoplastic fingernailFrontal bossingGastroesophageal refluxAnal atresiaVentriculomegalyAbnormal speech patternRecurrent respiratory infectionsAbnormality of neuronal migrationIntestinal malrotationScoliosisHigh, narrow palateKyphosisHemivertebraeShort noseAbnormal hip bone morphologyShort statureHypoplastic left ventricleEctopic anusDepressed nasal bridgeFinger syndactylyAtrioventricular canal defectAplasia/Hypoplasia of the nipplesAplasia/Hypoplasia of the cerebellumHypoplasia of penisFeeding difficulties in infancyPostnatal growth retardation
Classification & Codes
Orphanet Code
ORPHA:7Ritscher-Schinzel syndrome 1
| Orphanet | ORPHA:7 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO