Treacher Collins syndrome
MeSH: D008342ORPHA: 861
Overview
human genetic disorder
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 Treacher Collins syndrome, sourced from HPO and Orphanet clinical annotations.
AphasiaMalar flatteningRetrognathiaHypoplasia of the maxillaMicrognathiaDownslanted palpebral fissuresAbnormal facial shapeSkeletal dysplasiaAbnormality of bone mineral densityHypoplasia of the zygomatic boneOpen biteShort faceMidface retrusionAbnormality of the dentitionLow anterior hairlineAbnormality of the outer earPosteriorly rotated earsAbnormality of the middle earConductive hearing impairmentAtresia of the external auditory canalWide nasal bridgeStrabismusVisual impairmentAbsent eyelashesIris colobomaEyelid colobomaDental malocclusionDelayed speech and language developmentFrontal bossingMicrotiaTooth agenesisNarrow internal auditory canalCryptorchidismSmall scrotumRectovaginal fistulaWide mouthNarrow mouthGlossoptosisCleft palateCleft upper lipHigh palateBrachycephalyHypertelorismPreauricular skin tagChoanal atresiaCataractMicrophthalmiaBlepharospasmAbnormal dental enamel morphologyHypoplasia of the thymusAbnormality of the adrenal glandsAbnormality of the vertebral columnGlobal developmental delayFailure to thrivePatent ductus arteriosusTessier cleftEncephaloceleRespiratory insufficiencyTracheoesophageal fistulaMultiple enchondromatosisThyroid hypoplasiaAbnormal dental morphologyHypoplasia of penisFeeding difficulties in infancyPreauricular hair displacementBranchial fistulaAbnormal lacrimal duct morphologyAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
D008342Orphanet Code
ORPHA:861Treacher Collins syndrome
| MeSH | D008342 |
| Orphanet | ORPHA:861 |
| Treatments | 0 drug(s) |
| Symptoms on record | 68 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO