Craniofacial Microsomia

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects gptkb:jaw
eye
face
mouth
ear
gptkbp:alsoKnownAs hemifacial microsomia
oculo-auriculo-vertebral spectrum
gptkbp:cause unknown
gptkbp:diagnosedBy clinical examination
imaging studies
gptkbp:firstDescribed 1881
https://www.w3.org/2000/01/rdf-schema#label Craniofacial Microsomia
gptkbp:ICD-10_code Q87.0
gptkbp:MeSH_ID D006282
gptkbp:OMIM 164210
gptkbp:prevalence 1 in 3,500 to 1 in 5,600 live births
gptkbp:relatedTo Goldenhar syndrome
gptkbp:riskFactor maternal diabetes
maternal exposure to teratogens
gptkbp:symptom hearing loss
cleft lip
cleft palate
facial asymmetry
underdeveloped ear
underdeveloped jaw
gptkbp:treatment surgery
speech therapy
hearing aids
gptkbp:bfsParent gptkb:CMF
gptkbp:bfsLayer 6