3p- syndrome

ORPHA: 1620

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 3p- syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsHypertelorismLong philtrumMicrognathiaTelecanthusPtosisShort statureCognitive impairmentCryptorchidismCleft palateHigh palateBrachycephalyMicrocephalyEpicanthusHearing impairmentPostaxial hand polydactylyHypotoniaIntrauterine growth retardationDownturned corners of mouthAtrioventricular canal defectInguinal herniaThin vermilion borderTriangular faceAnteverted naresShort neckBlepharophimosisSacral dimpleSeizureSpasticityUmbilical herniaVentriculomegalyClinodactyly of the 5th fingerPreauricular pitAbnormal vestibulo-ocular reflex

Classification & Codes

Orphanet Code

ORPHA:1620
3p- syndrome
OrphanetORPHA:1620
Treatments0 drug(s)
Symptoms on record34 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO