Kaufman oculocerebrofacial syndrome
MeSH: C537013ORPHA: 2707
Overview
. An autosomal recessive mode of inheritance seems most likely.
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 Kaufman oculocerebrofacial syndrome, sourced from HPO and Orphanet clinical annotations.
BrachycephalyMicrocephalyRetrognathiaMicrognathiaUpslanted palpebral fissureAbnormal optic nerve morphologyOptic atrophyArachnodactylyIntellectual disabilityGlobal developmental delaySpecific learning disabilityLong footDyspneaRespiratory distressRespiratory failureFlat occiputWide mouthAbnormal lip morphologyAbnormal upper lip morphologyThin vermilion borderNarrow faceLong faceEpicanthusSmooth philtrumShort philtrumPreauricular skin tagMicrocorneaStrabismusTelecanthusMyopiaBlepharophimosisNystagmusMicrodontiaFailure to thriveGrowth delayAbsent eyebrowHigh, narrow palateMuscle flaccidityFeeding difficultiesShort palpebral fissureThin eyebrowChorioretinal dystrophyChorioretinal scalloped atrophyClitoral hypertrophy
Classification & Codes
MeSH Code
C537013Orphanet Code
ORPHA:2707Kaufman oculocerebrofacial syndrome
| MeSH | C537013 |
| Orphanet | ORPHA:2707 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO