distal trisomy 18q
ORPHA: 1716
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 distal trisomy 18q, sourced from HPO and Orphanet clinical annotations.
CryptorchidismDolichocephalyRound faceTriangular faceMicrognathiaProminent nasal bridgeAnteverted naresShort neckThickened nuchal skin foldCarious teethGlobal developmental delayShort noseProgressive intervertebral space narrowingAbnormal dental morphologyAbnormal hair patternCognitive impairmentHigh palateArachnodactylyAbnormal dermatoglyphicsBilateral single transverse palmar creasesHypoplasia of penisAbnormal cardiovascular system morphologyCamptodactyly of fingerAbnormal female external genitalia morphologyChoanal atresiaIris colobomaPectus excavatumLarge handsDeviation of fingerClinodactyly of the 5th fingerPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:1716distal trisomy 18q
| Orphanet | ORPHA:1716 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO