Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.



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

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000176 Submucous cleft hard palate Very frequent (99-80%)
HP:0000193 Bifid uvula Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000278 Retrognathia Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001328 Specific learning disability Occasional (29-5%)
HP:0007703 Abnormality of retinal pigmentation Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID