Oculo-palato-cerebral syndrome

Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(62.2%)		 11241490
 Oculo-palatal-cerebral syndrome: a second case.
Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D.
Am J Med Genet. 2001;99(3):200-3.
Microcephaly Small hand
Cleft Palate Eye Abnormalities Homo sapiens Infant Male Syndrome Telencephalon
2
(39.0%)		 15368502
 Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.
Alanay Y, Boduroglu K, Sonmez B, Orhan M.
Am J Med Genet A. 2004;130A(1):92-5.
Microcephaly
Cleft Palate Craniofacial Abnormalities Dwarfism Eye Abnormalities Females Genes, Recessive Homo sapiens Infant Microcephaly
2
(39.0%)		 3995792
 Oculo-palato-cerebral dwarfism: a new syndrome.
Frydman M, Kauschansky A, Leshem I, Savir H.
Clin Genet. 1985;27(4):414-9.
Microcephaly
Child, Preschool Cleft Palate Dwarfism Females Homo sapiens Male Microcephaly Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0002099 Asthma Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000391 Thickened helices Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000555 Leukocoria Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001382 Joint hypermobility Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001773 Short foot Frequent (79-30%)
HP:0002705 High, narrow palate Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006913 Frontal cortical atrophy Frequent (79-30%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0007968 Remnants of the hyaloid vascular system Frequent (79-30%)
HP:0008386 Aplasia/Hypoplasia of the nails Frequent (79-30%)
HP:0200055 Small hand Frequent (79-30%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000541 Retinal detachment Occasional (29-5%)
HP:0002283 Global brain atrophy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000252 Microcephaly 1
HP:0000568 Microphthalmia 1
HP:0001382 Joint hypermobility 1
HP:0002059 Cerebral atrophy 1
HP:0004322 Short stature 1
HP:0200055 Small hand 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID