Cohen syndrome
MeSH: C536438ORPHA: 193
Overview
a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity
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 Cohen syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormality of the dentitionOpen mouthGingival overgrowthMicrocephalyLow anterior hairlineShort philtrumHypoplasia of the maxillaMicrognathiaProminent nasal bridgeAbnormal eyelid morphologyDownslanted palpebral fissuresAbnormal eyelash morphologyLong eyelashesMyopiaThick eyebrowChorioretinal dystrophyArachnodactylyTapered fingerIntellectual disabilityHypotoniaGlobal developmental delaySandal gapDecreased total neutrophil countAbnormal speech patternHigh, narrow palateTooth agenesisAplasia/Hypoplasia of the tongueHypoplasia of the zygomatic boneSlender toeDelayed pubertyAbnormality of skin pigmentationIntrauterine growth retardationObesityFailure to thrive in infancyDecreased fetal movementMacrodontiaWeak cryGenu valgumCubitus valgusClinodactyly of the 5th fingerNarrow palmShort statureFinger syndactylyFeeding difficulties in infancyThick hairCat cryCryptorchidismPreauricular skin tagSensorineural hearing impairmentStrabismusMicrophthalmiaIris colobomaNystagmusOptic atrophyPectus excavatumSeizureVentricular septal defectMitral valve prolapseScoliosisKyphosisAbnormal hip bone morphologyAbnormal retinal pigmentationAplasia/Hypoplasia of the earlobes
Classification & Codes
MeSH Code
C536438Orphanet Code
ORPHA:193Cohen syndrome
| MeSH | C536438 |
| Orphanet | ORPHA:193 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO