Cleft Lip/palate-Ectodermal Dysplasia Syndrome (EDMI)

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OMIM 57 225060 Disease Ontology 12 DOID:0060773 MedGen 42 C2931488 CN074253 C1833538 C1857043 more

MeSH 44 D004476 D002971 SNOMED-CT via HPO 69 258211005 204912007 48130008 63567004 87979003 80281008 32958008 275480001 69056000 275478007 249321001 246800008 275259005 253207002 64969001 80967001 16958000 26624006 32337007 45004005 254154003 8654005 706885006 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 278040002 56317004 32113001 25159003 274521009 1085331000119107 249710008 61960001 17170005 249769001 268251006 34048007 422775003 423230008 more UMLS 73 C2931488 C1833538

UniProtKB/Swiss-Prot : ⁷⁵ Ectodermal dysplasia, Margarita Island type: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. Non-syndromic orofacial cleft 7: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Cleft Lip/palate-Ectodermal Dysplasia Syndrome, also known as orofacial cleft 7, is related to ectodermal dysplasia and syndactyly ectodermal dysplasia cleft lip palate hand foot. An important gene associated with Cleft Lip/palate-Ectodermal Dysplasia Syndrome is NECTIN1 (Nectin Cell Adhesion Molecule 1), and among its related pathways/superpathways are PAK Pathway and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include bone and ovary, and related phenotypes are malar flattening and finger syndactyly

Disease Ontology : ¹² An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has material basis in homozygous mutation in the NECTIN1 gene on chromosome 11q23.

Description from OMIM: 225060

Clinical features from OMIM:

225060

Search Clinical Trials , NIH Clinical Center for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Search GEO for disease gene expression data for Cleft Lip/palate-Ectodermal Dysplasia Syndrome.