Hemifacial Microsomia malady
Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories
OMIM:45 Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically... (164210) more...
MalaCards based summary: Hemifacial Microsomia, also known as goldenhar syndrome, is related to dysostosis and microsomia hemifacial radial defects, and has symptoms including facial asymmetry, micrognathia and hearing impairment. An important gene associated with Hemifacial Microsomia is SALL1 (spalt-like transcription factor 1). The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and lung, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.
Disease Ontology:9 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.
NIH Rare Diseases:41 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. affected individuals commonly have 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 facial structure, heart, lungs, kidneys, and central nervous system. the underlying cause of the condition remains unknown. last updated: 11/9/2010
Wikipedia:63 Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the... more...
Hemifacial Microsomia, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):47
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy
Symptoms by clinical synopsis from OMIM:164210
Clinical features from OMIM:164210
Symptoms:47 (show all 44)
HPO human phenotypes related to Hemifacial Microsomia:(show all 79)
MalaCards organs/tissues related to Hemifacial Microsomia:31
Eye, Kidney, Lung, Heart, Trachea, Bone, Skin
Articles related to Hemifacial Microsomia:(show all 28)
Search GEO for disease gene expression data for Hemifacial Microsomia.
Cellular components related to Hemifacial Microsomia according to GeneCards Suite gene sharing:
Biological processes related to Hemifacial Microsomia according to GeneCards Suite gene sharing:
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet