Cornelia de Lange syndrome
MeSH: D003635ORPHA: 199
Overview
genetic 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 Cornelia de Lange syndrome, sourced from HPO and Orphanet clinical annotations.
High palateThin vermilion borderBrachycephalyMicrocephalyLow anterior hairlineLong philtrumMicrognathiaAtresia of the external auditory canalAnteverted naresShort neckLong eyelashesThick eyebrowSynophrysDelayed eruption of teethWidely spaced teethIntellectual disabilityHypertoniaToe syndactylyShort footGastroesophageal refluxLow posterior hairlineGeneralized hirsutismHighly arched eyebrowDownturned corners of mouthDelayed skeletal maturationMicromeliaShort noseShort statureDepressed nasal bridgeCurly eyelashesProximal placement of thumbShort 1st metacarpalAbnormally low-pitched voiceSevere intellectual disabilitySmall handMulticystic kidney dysplasiaCryptorchidismHypospadiasHypoplastic labia majoraVesicoureteral refluxConductive hearing impairmentSensorineural hearing impairmentMicrocorneaBlepharitisPtosisMyopiaPhthisis bulbiCompulsive behaviorsAnxietyCutis marmorataJoint stiffnessFailure to thriveIntrauterine growth retardationPremature birthAbnormal speech patternSleep disturbanceHypoplastic nipplesRadioulnar synostosisElbow dislocationClinodactyly of the 5th fingerAttention deficit hyperactivity disorderBilateral single transverse palmar creasesHypoplasia of penisSevere postnatal growth retardationFeeding difficulties in infancyRenal insufficiencyAbnormality of the uterusCleft palateMacrotiaChoanal atresiaStrabismusGlaucomaCataractNystagmusAutismPectus excavatumCongenital diaphragmatic herniaPrimary amenorrheaDelayed pubertySeizureHypotoniaHip dysplasiaPrenatal movement abnormalityVentricular septal defectAtrial septal defectTalipesTruncal obesityPyloric stenosisVentriculomegalyCerebral cortical atrophyIntestinal malrotationVolvulusHip dislocationAplasia/Hypoplasia of the cerebellumPeripheral neuropathyIncreased nuchal translucencyOligodactylyAbnormal cardiovascular system morphologyAbnormal morphology of ulnaPosteriorly rotated ears
Classification & Codes
MeSH Code
D003635Orphanet Code
ORPHA:199Cornelia de Lange syndrome
| MeSH | D003635 |
| Orphanet | ORPHA:199 |
| Treatments | 0 drug(s) |
| Symptoms on record | 100 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO