Hajdu-Cheney syndrome

MeSH: D031845ORPHA: 955

Contents

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

Overview

rare 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 Hajdu-Cheney syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityHypertelorismLong philtrumMicrognathiaDownslanted palpebral fissuresThick eyebrowPeriodontitisAbnormal skull morphologyOsteopeniaOsteoporosisBrachydactylyShort toeAbnormal facial shapeSkeletal dysplasiaOsteolysisShort statureDecreased skull ossificationShort distal phalanx of fingerPartial absence of toeNarrow mouthAbnormality of the dentitionThin vermilion borderMacrocephalyDolichocephalyProminent occiputAbnormal mandible morphologyCoarse facial featuresFull cheeksHearing impairmentWide noseAnteverted naresShort neckTelecanthusAbnormal fingernail morphologyGeneralized hirsutismChiari malformationWormian bonesScoliosisBone painAbsent frontal sinusesPlatybasiaDownturned corners of mouthRecurrent fracturesArthralgiaBiconcave vertebral bodiesHypoplastic 5th lumbar vertebraeOpen biteInguinal herniaHypospadiasCleft palateHydrocephalusLow anterior hairlineLow-set earsWide nasal bridgeCataractMyopiaIris colobomaSynophrysPectus carinatumDelayed pubertyDry skinThickened skinFailure to thriveUmbilical herniaAbnormality of the voiceVentricular septal defectPatent ductus arteriosusAortic valve stenosisMitral stenosisSplenomegalyRecurrent respiratory infectionsCoarse hairHepatomegalyHeadacheIntestinal malrotationKyphosisPatellar dislocationSyringomyeliaMultiple renal cystsBowing of the long bonesPeripheral neuropathyHypoplasia of the zygomatic boneAbnormal cardiovascular system morphologyCoarse metaphyseal trabecularizationHerniaSkin ulcer

Classification & Codes

MeSH Code

D031845

Orphanet Code

ORPHA:955

Hajdu-Cheney syndrome

MeSH	`D031845`
Orphanet	`ORPHA:955`
Treatments	0 drug(s)
Symptoms on record	86 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO