Facial clefting, oblique, 1

Preferred Label : Facial clefting, oblique, 1;

Symbol : OBLFC1;

CISMeF acronym : OBLFC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oculomaxillofacial dysplasia with oblique facial clefts;

Description : Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sperm antigen with calponin homology and coiled-coil domains 1-like gene (SPECC1L, 614140.0001);

Prefixed ID : #600251;

Details

Origin ID

600251;

UMLS CUI

C1838348;

Automatic exact mappings (from CISMeF team)
- Oculomaxillofacial dysostosis [MeSH concept]
- Tessier number 4 facial cleft [ORDO Disease]
- oblique facial clefting 1 [DO Concept]
- oculomaxillofacial dysostosis [MeSH Supplementary Concept]
DO Cross reference
- oblique facial clefting 1 [DO Concept]
Genes related to phenotype
- Sperm antigen with calponin homology and coiled-coil domains 1-like [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coloboma [HPO term]
- Deep palmar crease [HPO term]
- Facial cleft [HPO term]
- Sporadic [HPO term]
- Talipes calcaneovalgus [HPO term]
ORDO concept(s)
- Tessier number 4 facial cleft [ORDO Disease]
See also inter- (CISMeF)
- Oculomaxillofacial dysostosis (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculomaxillofacial dysostosis [ORDO Disease]
- Oculomaxillofacial dysostosis [MeSH concept]
- Oculomaxillofacial dysostosis (disorder) [SNOMED CT concept]
- oculomaxillofacial dysostosis [MeSH Supplementary Concept]

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