Frontofacionasal dysplasia

Preferred Label : Frontofacionasal dysplasia;

CISMeF acronym : FFND;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Frontofacionasal dysostosis; FFND;

Description : The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissues, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).;

Inheritance : Autosomal recessive;

Prefixed ID : %229400;

Details

Origin ID

229400;

UMLS CUI

C2931720;

Automatic exact mappings (from CISMeF team)
- Frontofacionasal dysostosis [ICD-11 More detail]
- Frontofacionasal dysplasia syndrome (disorder) [SNOMED CT concept]
- Oculoauriculofrontonasal syndrome [PASCAL descriptor]
Currated CISMeF NLP mapping
- Fronto-facio-nasal dysplasia [MeSH concept]
- Frontofacionasal dysplasia [ORDO Disease]
- fronto-facio-nasal dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Absent inner eyelashes [HPO term]
- Ankyloblepharon [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nose [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Cataract [HPO term]
- Cleft upper lip [HPO term]
- Cranium bifidum occultum [HPO term]
- Eyelid coloboma [HPO term]
- Frontal cutaneous lipoma [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the frontal bone [HPO term]
- Iris coloboma [HPO term]
- Malar flattening [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Midline defect of the nose [HPO term]
- Oral cleft [HPO term]
- Ptosis [HPO term]
- S-shaped palpebral fissures [HPO term]
- Short nose [HPO term]
- Telecanthus [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Frontofacionasal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fronto-facio-nasal dysplasia [MeSH concept]
- Frontofacionasal dysplasia [ORDO Disease]
- Frontofacionasal dysplasia syndrome (disorder) [SNOMED CT concept]
- fronto-facio-nasal dysplasia [MeSH Supplementary Concept]

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