chromosome 19q13.11 deletion syndrome
MeSH: C567810ORPHA: 217346
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 19q13.11 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
HypospadiasMicrocephalyDelayed speech and language developmentAplasia cutis congenitaIntellectual disabilityFailure to thriveGrowth delayIntrauterine growth retardationClinodactyly of the 5th fingerCachexiaFeeding difficultiesCryptorchidismThin vermilion borderLong faceRetrognathiaHigh foreheadUnderdeveloped nasal alaeDry skinThin skinToe syndactylyToe clinodactylyNail dysplasiaRecurrent respiratory infectionsFine hairSupernumerary nippleSparse lateral eyebrowFinger syndactylyWide intermamillary distanceSparse hairBroad columellaSparse or absent eyelashesBifid scrotumWide mouthHearing impairmentMicrocorneaCataractCongenital hip dislocationVentricular septal defectSolitary median maxillary central incisorAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C567810Orphanet Code
ORPHA:217346chromosome 19q13.11 deletion syndrome
| MeSH | C567810 |
| Orphanet | ORPHA:217346 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO