Craniofacial microsomia 1

Preferred Label : Craniofacial microsomia 1;

Symbol : CFM1;

CISMeF acronym : HFM; OAVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Facioauriculovertebral sequence; Oculoauriculovertebral spectrum; Goldenhar syndrome; Oav dysplasia; OAVS; Fav sequence; Oculoauriculovertebral dysplasia; HFM; Hemifacial microsomia;

Description : Hemifacial microsomia is a common birth defect involving first and second branchial arch derivatives. The phenotype is highly variable. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance. See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum.;

Inheritance : Autosomal dominant;

Prefixed ID : #164210;

Details

Origin ID

164210;

UMLS CUI

C0265240;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [ICD-11 More detail]
- Hemifacial Microsomia [MeSH concept]
- Hemifacial hypoplasia [HPO term]
- Hemifacial microsomia [PASCAL descriptor]
- Hemifacial microsomia [ICD-11 More detail]
- Oculo-auriculo-vertebral spectrum [ORDO Disease]
- Oculo-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- facial asymmetry [MeSH Descriptor]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
- goldenhar syndrome [MeSH Descriptor]
- goldenhar syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Hemifacial microsomia (disorder) [SNOMED CT concept]
- Otomandibular syndrome [ORDO Disease]
DO Cross reference
- Goldenhar syndrome [DO Concept]
False automatic mappings
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
Genes related to phenotype
- Splicing factor 3b, subunit 2 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Amblyopia [HPO term]
- Anophthalmia [HPO term]
- Anotia [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Block vertebrae [HPO term]
- Branchial anomaly [HPO term]
- Cervical ribs [HPO term]
- Chiari malformation [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coarctation of aorta [HPO term]
- Conductive hearing impairment [HPO term]
- Duplicated tragus [HPO term]
- Ectopic kidney [HPO term]
- Facial asymmetry [HPO term]
- Genu valgum [HPO term]
- Hemifacial hypoplasia [HPO term]
- Hemivertebrae [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of facial musculature [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Limbal dermoid [HPO term]
- Malar flattening [HPO term]
- Maxillozygomatic hypoplasia [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Mild global developmental delay [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Occipital encephalocele [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Patent ductus arteriosus [HPO term]
- Preauricular skin tag [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal agenesis [HPO term]
- Right aortic arch [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
- Transverse facial cleft [HPO term]
- Underdeveloped tragus [HPO term]
- Unilateral external ear deformity [HPO term]
- Upper eyelid coloboma [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Ventricular septal defect [HPO term]
- Vertebral hypoplasia [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Goldenhar syndrome [ORDO Disease]
See also inter- (CISMeF)
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- facial asymmetry [MeSH Descriptor]
- facial asymmetry [MeSH concept]
- goldenhar syndrome [MeSH Descriptor]
- goldenhar syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial microsomia (disorder) [SNOMED CT concept]
- Facio-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- First and second branchial arch syndrome (disorder) [SNOMED CT concept]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Hemifacial microsomia (disorder) [SNOMED CT concept]
- Oculo-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
- Otomandibular dysostosis (disorder) [SNOMED CT concept]
- Otomandibular syndrome [ORDO Disease]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
- first arch syndrome, nos [SNOMED Notion]
- goldenhar syndrome [MeSH concept]
- goldenhar syndrome [MeSH Descriptor]

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