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HFM
MCID: HMF006
MIFTS: 55
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Hemifacial Microsomia (HFM)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Hemifacial Microsomia:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
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: Eye diseases Ear diseases Bone diseases
ICD10:
32
Orphanet: 58
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD :
20
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 dysostosis. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways are Neural Crest Differentiation and Inhibition of Ribosome Biogenesis by p14(ARF). The drugs Lamivudine and Adefovir dipivoxil have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and kidney, and related phenotypes are intellectual disability and agenesis of corpus callosum 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® : 57 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) (Updated 05-Mar-2021) 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®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:164210 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Hemifacial Microsomia:46 (show all 13)
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Drugs for Hemifacial Microsomia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
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,
Heart,
Bone Marrow,
Tongue
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Articles related to Hemifacial Microsomia:(show top 50) (show all 1180)
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Genes related to Hemifacial Microsomia (1 elite genes):(show all 19) - Elite gene
- Cancer Census gene in COSMIC
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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 20)
Molecular functions related to Hemifacial Microsomia according to GeneCards Suite gene sharing:
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