non-distal trisomy 10q

ORPHA: 1695

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 non-distal trisomy 10q, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityPosteriorly rotated earsEverted lower lip vermilionMicrocephalyHypertelorismMicrognathiaHigh foreheadDownslanted palpebral fissuresBlepharophimosisFrontal bossingAbnormality of chromosome segregationShort noseShort statureDepressed nasal bridgeCognitive impairmentCryptorchidismHigh palateBrachycephalyConvex nasal ridgePectus excavatumScoliosisAplasia/Hypoplasia affecting the eyeAbnormality of the urinary systemAbnormal cardiovascular system morphology

Classification & Codes

Orphanet Code

ORPHA:1695
non-distal trisomy 10q
OrphanetORPHA:1695
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
non-distal trisomy 10q | OrphanDrug