Hennekam-Beemer syndrome
ORPHA: 2135
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 Hennekam-Beemer syndrome, sourced from HPO and Orphanet clinical annotations.
Thick lower lip vermilionHigh palateTriangular faceOptic atrophyPruritusAbnormality of skin pigmentationIntellectual disabilityHypotoniaAreflexiaFailure to thrivePneumoniaRespiratory insufficiencyVentriculomegalyHypotensionScoliosisShort statureMicrotiaSevere global developmental delayFatigueLower limb asymmetryPapuleMicrocephalyDelayed cranial suture closureProminent supraorbital ridgesMicrognathiaHearing impairmentConductive hearing impairmentWide nasal bridgeWide noseProptosisUpslanted palpebral fissureIrritabilityAbnormality of the skeletal systemUrticariaThickened skinSeizureSubcutaneous noduleVomitingAbdominal painLong noseClinodactyly of the 5th fingerIrregular hyperpigmentationGeneralized hyperpigmentationErythemaArrhythmiaMaculeImmunologic hypersensitivityCamptodactyly of fingerMastocytosisTelangiectasia of the skinLichenificationSkin vesicle
Classification & Codes
Orphanet Code
ORPHA:2135Hennekam-Beemer syndrome
| Orphanet | ORPHA:2135 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO