HFM
MCID: HMF006
MIFTS: 55
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Hemifacial Microsomia (HFM)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Hemifacial Microsomia:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
most cases are sporadic discordant phenotype among monozygotic twins has been reported abnormal morphogenesis of first and second branchial arches estimated frequence 1/3000 to 1/5000 slight male predominance (3:2) often unilateral involvement HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Ear diseases Bone diseases Neuronal diseases Smell/Taste diseases
ICD10:
32
Orphanet: 58
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NIH Rare Diseases :
52
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms 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 during the growth and development of the skull and face.
MalaCards based summary : Hemifacial Microsomia, also known as goldenhar syndrome, is related to microtia and branchiootorenal syndrome. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways are Neural Crest Differentiation and Dopaminergic Neurogenesis. The drugs Tenofovir and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and kidney, and related phenotypes are intellectual disability and microtia Disease Ontology : 12 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 : 56 Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by Poole, 1989 and Hennekam et al., 2010). See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum. (164210) Wikipedia : 74 Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose,... more... |
Human phenotypes related to Hemifacial Microsomia:31 (show all 41)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:164210MGI Mouse Phenotypes related to Hemifacial Microsomia:45 (show all 17)
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Drugs for Hemifacial Microsomia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:(show all 13)
Cochrane evidence based reviews: goldenhar syndrome |
Genetic tests related to Hemifacial Microsomia:
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MalaCards organs/tissues related to Hemifacial Microsomia:40
Eye,
Bone,
Kidney,
Lung,
Skin,
Heart,
Bone Marrow
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Articles related to Hemifacial Microsomia:(show top 50) (show all 1138)
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Search
GEO
for disease gene expression data for Hemifacial Microsomia.
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Cellular components related to Hemifacial Microsomia according to GeneCards Suite gene sharing:
Biological processes related to Hemifacial Microsomia according to GeneCards Suite gene sharing:(show all 28)
Molecular functions related to Hemifacial Microsomia according to GeneCards Suite gene sharing:
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