odontoonychodermal syndrome

MeSH: C563160ORPHA: 2710

Overview

syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities

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 odontoonychodermal syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal pinna morphologyCleft palateAbnormality of the noseUnderdeveloped nasal alaeNarrow nasal bridgeMicrocorneaAbnormality of the earCarious teethAbnormal dental enamel morphologyToe syndactylyClinodactyly of the 5th fingerFinger syndactylyPremature loss of primary teethTooth agenesisBroad columellaNeurogenic bladderMedian cleft upper lipBroad alveolar ridgesMandibular prognathiaHypertelorismHigh foreheadConductive hearing impairmentAnteverted naresAbnormality of the eyeGlaucomaAbnormality of visionVisual impairmentCataractMyopiaHypotelorismOptic atrophyAbnormal metaphysis morphologyAbnormal fingernail morphologySeizureAtaxiaSpasticityDysarthriaGait disturbanceMuscle weaknessHyperreflexiaAbnormal nail morphologyCurly hairSlow-growing hairSpastic paraparesisCerebral calcificationAbnormal cortical bone morphologyShort noseCranial hyperostosisAplasia/Hypoplasia of the cerebellumSparse hairHigh hypermetropiaAplasia/Hypoplasia of the middle phalanges of the handMild global developmental delayClinodactylyCamptodactyly of fingerHyperostosisEpicanthusMicrognathiaHearing impairmentStrabismusDeeply set eyeAbnormality iris morphologyUpslanted palpebral fissureNystagmusTaurodontiaAbnormal clavicle morphologyAbnormal diaphysis morphologyPalmoplantar keratodermaBrachydactylyHand polydactylyPreaxial hand polydactylyIntellectual disabilityUmbilical herniaVentricular septal defectHypoglycemiaFine hairBrittle hairMadelung deformityAbnormal form of the vertebral bodiesShort halluxArrhythmiaAbnormal cardiovascular system morphologyNon-midline cleft of the upper lip

Classification & Codes

MeSH Code

C563160

Orphanet Code

ORPHA:2710
odontoonychodermal syndrome
MeSHC563160
OrphanetORPHA:2710
Treatments0 drug(s)
Symptoms on record83 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO