Wolf-Hirschhorn syndrome

MeSH: D054877ORPHA: 280

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

chromosome abnormality with a distinct craniofacial phenotype and intellectual disability

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 Wolf-Hirschhorn syndrome, sourced from HPO and Orphanet clinical annotations.

Downslanted palpebral fissuresHypodontiaSeizureAtaxiaHypotoniaGlobal developmental delayFailure to thriveIntrauterine growth retardationDecreased fetal movementFrontal bossingLow posterior hairlineHighly arched eyebrowDownturned corners of mouthMicrotiaHigh anterior hairlineSevere intellectual disabilityCryptorchidismAbnormality of the kidneyCleft upper lipHearing impairmentPtosisIris colobomaOptic atrophyTaurodontiaDelayed eruption of teethAbnormal thorax morphologyCongenital diaphragmatic herniaRib fusionAbnormality of the vertebral columnDry skinSacral dimpleHemangiomaArachnodactylySplit handPreaxial hand polydactylyCalvarial skull defectAtrial septal defectAbnormal heart valve morphologyAbnormal cardiac septum morphologyAbnormal foot morphologyTalipes equinovarusTethered cordSleep disturbanceScoliosisDecreased circulating IgA concentrationDelayed skeletal maturationKyphosisAbnormal form of the vertebral bodiesAbnormal vertebral morphologyPreauricular pitRib segmentation abnormalitiesAplasia/Hypoplasia of the lungsAplasia cutis congenita of scalpHypoplastic pubic ramusShort thumbShort halluxFeeding difficultiesAbnormal cardiovascular system morphologyAbnormality of the genital systemAbnormality of the urinary systemAplasia of the uterusCleft palateChronic otitis mediaMegalocorneaStrabismusRetinopathyGlaucomaProptosisNystagmusSclerocorneaOsteoporosisAgenesis of corpus callosumDisproportionate tall statureRecurrent respiratory infectionsAbnormality of the immune systemAbdominal situs inversusAbnormality of the gallbladderAplasia/Hypoplasia of the nipplesAplasia/Hypoplasia of the cerebellumStreak ovaryAbnormality of movementHerniaHypospadiasAbnormality of the mouthAbnormal lip morphologyMicrocephalyDolichocephalyEpicanthusAbnormality of the philtrumHypertelorismShort philtrumMicrognathiaHigh foreheadPosteriorly rotated earsWide nasal bridge

Classification & Codes

MeSH Code

D054877

Orphanet Code

ORPHA:280

Wolf-Hirschhorn syndrome

MeSH	`D054877`
Orphanet	`ORPHA:280`
Treatments	0 drug(s)
Symptoms on record	95 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO