non-distal trisomy 13q

ORPHA: 1702

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 non-distal trisomy 13q, sourced from HPO and Orphanet clinical annotations.

CryptorchidismAbnormality of the dentitionHigh palateEverted lower lip vermilionThin vermilion borderTrigonocephalyMicrocephalyLong philtrumMicrognathiaAbnormal eyelash morphologyThick eyebrowHypotelorismSynophrysNarrow chestHemangiomaPostaxial hand polydactylyArachnodactylyAbnormal fingernail morphologyHypoplastic toenailsAbnormality of chromosome segregationShort noseWide intermamillary distanceAplasia/Hypoplasia affecting the eyeAbnormal antihelix morphologyAplasia/Hypoplasia of the earlobesCognitive impairmentHernia

Classification & Codes

Orphanet Code

ORPHA:1702
non-distal trisomy 13q
OrphanetORPHA:1702
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
non-distal trisomy 13q | OrphanDrug