Hemifacial Microsomia (HFM)

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OMIM 57 164210 Disease Ontology 12 DOID:2907 ICD10 33 Q87.0 MeSH 44 D006053 NCIt 50 C84740 SNOMED-CT 68 15557005 46567003 Orphanet 59 ORPHA374 ORPHA141136

ICD10 via Orphanet 34 Q87.0 Q75.8 MESH via Orphanet 45 D006053 UMLS via Orphanet 74 C0265240 C0432130 MedGen 42 C3495417 SNOMED-CT via HPO 69 204962002 82525005 263681008 95575002 197811007 16507009 204942005 40159009 63567004 87979003 80281008 230745008 15253005 32958008 44057004 60700002 128602000 22066006 204099004 7183006 204108000 61142002 5131000119107 92097004 228156007 247578003 91138005 5102002 253549006 30288003 86299006 83330001 7305005 42376006 80825009 253184003 68359008 205456006 35045004 57436000 254025006 more UMLS 73 C0265240 C0220681

NIH Rare Diseases : ⁵³ 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 anus, imperforate and branchiootorenal syndrome. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include eye, kidney and lung, and related phenotypes are malar flattening and agenesis of corpus callosum

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)

Wikipedia : ⁷⁶ Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect... more...

Clinical features from OMIM:

164210

Search NIH Clinical Center for Hemifacial Microsomia

Search GEO for disease gene expression data for Hemifacial Microsomia.