Craniofacial Microsomia 1 (CFM1)

Alias:

Goldenhar Syndrome

Hemifacial Microsomia

Oculoauriculovertebral Spectrum

Craniofacial Microsomia

Oculo-Auriculo-Vertebral Spectrum

Oavs

First and Second Branchial Arch Syndrome

Facio-Auriculo-Vertebral Spectrum

Facioauriculovertebral Sequence

Otomandibular Dysostosis

Oav Dysplasia

Fav Sequence

Oav Spectrum

Hfm

Cfm

Goldenhar Syndrome with Ipsilateral Radial Defect

Asymmetric Hypoplasia of Facial Structures

First and Second Pharyngeal Arch Syndromes

Unilateral Intrauterine Facial Necrosis

Unilateral Mandibulofacial Dysostosis

Oral-Mandibular-Auricular Syndrome

Oculo-Auriculo-Vertebral Dysplasia

Oculoauricular Vertebral Dysplasia

Oculoauriculovertebral Dysplasia

Facioauriculovertebral Dysplasia

Auriculobranchiogenic Dysplasia

Goldenhar-Gorlin Syndrome

Lateral Facial Dysplasia

Microsomia, Hemifacial

First Arch Syndrome

Goldenhar Disease

Oav Dysplasia

Oav Complex

Cfm1

Fav

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Craniofacial Microsomia 1, also known as goldenhar syndrome, is related to microtia and dysostosis. An important gene associated with Craniofacial Microsomia 1 is SF3B2 (Splicing Factor 3b Subunit 2), and among its related pathways/superpathways is Dopaminergic neurogenesis. The drugs Curcumin and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are micrognathia and facial asymmetry

Related ID：

MALACARDS：CRN331

OMIM：164210

MESH：D006053