Frontonasal dysplasia 1

Preferred Label : Frontonasal dysplasia 1;

Symbol : FND1;

CISMeF acronym : FND; FND1; FNM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Median facial cleft syndrome; FRONTORHINY; FNM; Frontonasal dysplasia; FND; Frontonasal malformation;

Description : The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see 168500); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported. Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features. Also see acromelic frontonasal dysplasia (AFND; 603671), frontofacionasal dysplasia (FFND; 229400), oculoauriculofrontonasal syndrome (OAFNS; 601452), the acrofrontofacionasal dysostosis syndromes (201180, 239710), and craniofrontonasal syndrome (304110). - Genetic Heterogeneity of Frontonasal Dysplasia Frontonasal dysplasia-2 (FND2; 613451) is caused by mutation in the ALX4 gene (605420) on chromosome 11p11.2. Frontonasal dysplasia-3 (FND3; 613456) is caused by mutation in the ALX1 gene (601527) on chromosome 12q21.3-q22.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aristaless-like homeobox 3 gene (ALX3, 606014.0001);

Prefixed ID : #136760;

Details

Origin ID

136760;

UMLS CUI

C5574965;

Automatic exact mappings (from CISMeF team)
- FND protocol [MeSH Supplementary Concept]
- Fluorouracil/Methotrexate/Mitoxantrone Regimen [NCIt concept]
Currated CISMeF NLP mapping
- Frontonasal Dysplasia [NCIt concept]
- Frontonasal dysplasia [ICD-11 More detail]
- Frontonasal dysplasia [MeSH concept]
- Frontonasal dysplasia [ORDO Disease]
- Frontorhiny [ORDO Disease]
- Frontorhiny (disorder) [SNOMED CT concept]
- Midline facial cleft - Tessier cleft 0 (disorder) [SNOMED CT concept]
- Tessier number 0 facial cleft [HPO term]
- frontonasal dysplasia [MeSH Supplementary Concept]
False automatic mappings
- FND Regimen [NCIt concept]
- Thyroid Gland Follicular Nodular Disease [NCIt concept]
Genes related to phenotype
- Aristaless-like homeobox 3 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anterior basal encephalocele [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Bifid nose [HPO term]
- Brachydactyly [HPO term]
- Broad nasal root [HPO term]
- Broad nasal tip [HPO term]
- Broad notched nasal tip [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Clinodactyly [HPO term]
- Coloboma [HPO term]
- Conductive hearing impairment [HPO term]
- Cranium bifidum occultum [HPO term]
- Epicanthus [HPO term]
- Frontal cutaneous lipoma [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic frontal sinuses [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint contracture of the hand [HPO term]
- Low-set ears [HPO term]
- Median cleft lip [HPO term]
- Median cleft palate [HPO term]
- Microphthalmia [HPO term]
- Pectoral muscle hypoplasia/aplasia [HPO term]
- Pericallosal lipoma [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preauricular skin tag [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Short columella [HPO term]
- Sporadic [HPO term]
- Tetralogy of Fallot [HPO term]
- Wide nasal bridge [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Frontorhiny [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Frontonasal Dysplasia [NCIt concept]
- Frontonasal dysplasia [MeSH concept]
- Frontonasal dysplasia [ORDO Disease]
- Frontorhiny (disorder) [SNOMED CT concept]
- frontonasal dysplasia [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Frontonasal dysplasia sequence (disorder) [SNOMED CT concept]

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