Oculocerebrofacial syndrome, Kaufman type

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, <I>etc</I>. An autosomal recessive mode of inheritance seems most likely.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000587 Abnormality of the optic nerve Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0001166 Arachnodactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0001833 Long foot Very frequent (99-80%)
HP:0002094 Dyspnea Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0002878 Respiratory failure Very frequent (99-80%)
HP:0005469 Flat occiput Very frequent (99-80%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000159 Abnormal lip morphology Frequent (79-30%)
HP:0000177 Abnormality of upper lip Frequent (79-30%)
HP:0000233 Thin vermilion border Frequent (79-30%)
HP:0000275 Narrow face Frequent (79-30%)
HP:0000276 Long face Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000384 Preauricular skin tag Frequent (79-30%)
HP:0000482 Microcornea Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000691 Microdontia Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0002223 Absent eyebrow Frequent (79-30%)
HP:0002705 High, narrow palate Frequent (79-30%)
HP:0010547 Muscle flaccidity Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0012745 Short palpebral fissure Frequent (79-30%)
HP:0045074 Thin eyebrow Frequent (79-30%)
HP:0001135 Chorioretinal dystrophy Occasional (29-5%)
HP:0001139 Choroideremia Occasional (29-5%)
HP:0008665 Clitoral hypertrophy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
UBE3B ubiquitin protein ligase E3B 89910