chromosome 15q26-qter deletion syndrome
MeSH: C567232ORPHA: 1596
Overview
Human disease
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 chromosome 15q26-qter deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Intrauterine growth retardationSmall for gestational ageCryptorchidismHypospadiasMicropenisAbnormality of the dentitionCleft palateThin upper lip vermilionMicrocephalyCoarse facial featuresHypertelorismShort philtrumTriangular faceMicrognathiaHearing impairmentLow-set earsBroad nasal tipStrabismusBlepharophimosisUpslanted palpebral fissureAutistic behaviorDelayed speech and language developmentCongenital diaphragmatic herniaSeizureGlobal developmental delayFailure to thriveGrowth delayBicuspid aortic valveCoarctation of aortaMitral stenosisTalipes equinovarusSmall nailPulmonary hypoplasiaGeneralized joint hypermobilityHip dislocationGenu valgumShort statureFlat occiput2-3 toe cutaneous syndactylyAttention deficit hyperactivity disorderPostnatal growth retardationShort fingerShort distal phalanx of fingerBifid tongueAbnormal aortic arch morphologyDecreased circulating serum insulin-like growth factor 1 concentrationLow 1-minute APGAR scoreFinger clinodactylySmall handMulticystic kidney dysplasiaCystic hygromaSingle transverse palmar creaseSingle umbilical arteryPatent ductus arteriosusHypoplastic left ventricleAplasia cutis congenita over the scalp vertexMitral atresiaDouble outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosisAbnormal localization of kidney
Classification & Codes
MeSH Code
C567232Orphanet Code
ORPHA:1596chromosome 15q26-qter deletion syndrome
| MeSH | C567232 |
| Orphanet | ORPHA:1596 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO