Hemifacial Microsomia malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Hemifacial Microsomia:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases
ICD10: 28 27
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. the main characteristics are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. it is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the "first and second brachial arch". these structures will develop to form the neck and the head. the cause is still unknown. goldenhar syndrome is part of a group of conditions known as "craniofacial microsomia". it is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. treatment is age-dependent, with interventions at appropriate stages of skull and face growth and development. last updated: 4/23/2016
MalaCards based summary: Hemifacial Microsomia, also known as goldenhar syndrome, is related to craniofacial microsomia and microsomia hemifacial radial defects, and has symptoms including preauricular skin tag, hearing impairment and micrognathia. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include eye, kidney and lung, and related mouse phenotypes are limbs/digits/tail and vision/eye.
Disease Ontology:10 A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
OMIM:49 Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically... (164210) more...
Wikipedia:68 Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the... more...
Symptoms by clinical synopsis from OMIM:164210
Clinical features from OMIM:164210
Symptoms:51 (show all 44)
HPO human phenotypes related to Hemifacial Microsomia:(show all 79)
Drugs for Hemifacial Microsomia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
Search NIH Clinical Center for Hemifacial Microsomia
MalaCards organs/tissues related to Hemifacial Microsomia:33
Eye, Kidney, Lung, Heart, Trachea, Bone, Skin
MGI Mouse Phenotypes related to Hemifacial Microsomia:38 (show all 13)
Articles related to Hemifacial Microsomia:(show all 48)
Search GEO for disease gene expression data for Hemifacial Microsomia.
Pathways related to Hemifacial Microsomia according to GeneCards Suite gene sharing:
Biological processes related to Hemifacial Microsomia according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet