Dubowitz syndrome
MeSH: C535718ORPHA: 235
Overview
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 Dubowitz syndrome, sourced from HPO and Orphanet clinical annotations.
Submucous cleft hard palateWide anterior fontanelDelayed cranial suture closureNarrow faceEpicanthusLow anterior hairlineSloping foreheadMicrognathiaRecurrent otitis mediaProtruding earPtosisBlepharophimosisEczematoid dermatitisFailure to thriveHoarse voiceAbnormally high-pitched voiceShort footSandal gapRespiratory insufficiencySparse scalp hairFine hairRecurrent infectionsDelayed skeletal maturationClinodactyly of the 5th fingerDepressed nasal bridgeSparse lateral eyebrowAttention deficit hyperactivity disorderPostnatal growth retardationAbnormal antihelix morphologyNeurodevelopmental delaySmall handHydronephrosisAbnormality of the dentitionHigh palateHydrocephalusHearing impairmentStrabismusCataractMyopiaPhotophobiaNystagmusDental crowdingDelayed eruption of teethShort attention spanDelayed speech and language developmentPectus excavatumHypoparathyroidismDry skinSacral dimpleCutis marmorataAbnormality of skin pigmentationBrachydactylyAbnormal fingernail morphologySeizureHypotoniaSpecific learning disabilityCraniosynostosisAbnormal heart morphologyToe syndactylyHypoplastic toenailsMetatarsus adductusThrombocytopeniaAbnormality of neutrophilsAnemiaVomitingConstipationGastroesophageal refluxMalabsorptionAnal stenosisChronic diarrheaRectal prolapseAsthmaSleep disturbanceScoliosisSpina bifida occultaAplasia/Hypoplasia of the corpus callosumFeeding difficulties in infancyAbnormal cardiovascular system morphologyAuditory hypersensitivityWide mouthMegalocorneaMicrophthalmiaIris colobomaDecreased response to growth hormone stimulation testNeoplasmLymphomaAcute lymphoblastic leukemiaMicrocephalyHypertelorismTelecanthusIntellectual disabilityIntrauterine growth retardationShort statureAplasia/Hypoplasia of the thumbAbnormality of thumb phalanxUnderdeveloped supraorbital ridgesBroad thumbCryptorchidismHypospadiasAbnormal female external genitalia morphologyJoint hypermobilityPosteriorly rotated ears
Classification & Codes
MeSH Code
C535718Orphanet Code
ORPHA:235Dubowitz syndrome
| MeSH | C535718 |
| Orphanet | ORPHA:235 |
| Treatments | 0 drug(s) |
| Symptoms on record | 102 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO