trisomy 9p

ORPHA: 236

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 trisomy 9p, sourced from HPO and Orphanet clinical annotations.

BrachycephalyMicrocephalyHypertelorismMacrotiaProtruding earShort neckDeeply set eyeDownslanted palpebral fissuresAbnormal pupil morphologyDental crowdingSacral dimpleBrachydactylyIntellectual disabilityGlobal developmental delayHypoplastic toenailsHypoplastic fingernailScoliosisDownturned corners of mouthKyphosisClinodactyly of the 5th fingerAbnormal nasal morphologyWide intermamillary distanceAbnormal dermatoglyphicsBilateral single transverse palmar creasesImpacted toothNon-midline cleft of the upper lipFingernail dysplasia

Classification & Codes

Orphanet Code

ORPHA:236
trisomy 9p
OrphanetORPHA:236
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO