ODCs

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Oculocerebrofacial syndrome, Kaufman type

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

Oculocerebrofacial syndrome, Kaufman type

Split hand-split foot malformation

UBE3B	(UniProt - OMIM)	BTRC	(UniProt - OMIM)
		FBXW4	(UniProt - OMIM)
		SHFM1	(UniProt - OMIM)
		TP63	(UniProt - OMIM)
		WNT10B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UBE3B	(0.63)	SHFM1

Citations in the biomedical literature:

Oculocerebrofacial syndrome, Kaufman type		Split hand-split foot malformation
	Synonym(s): (no synonyms)		Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537013		External references: 6 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Oculocerebrofacial syndrome, Kaufman type		Split hand-split foot malformation
	Very frequent - Brachycephaly / flat occiput - Intellectual deficit / mental / psychomotor retardation / learning disability - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Long face - Macrostomia / big mouth - Microcornea - Muscle weakness / flaccidity - Myopia - Narrow face - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Preauricular / branchial tags / appendages - Short philtrum - Strabismus / squint - Telecanthus / canthal dystopy - Thin / retracted lips Occasional - Choroidal anomalies / atrophy / choroideremia - Female pseudohermaphrodism / virilisation / clitoridomegaly		Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance