Hemifacial Microsomia (HFM)

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Disease Ontology 12 DOID:2907 OMIM 56 164210 MeSH 43 D006053 NCIt 49 C84740 SNOMED-CT 67 205418005

ICD10 32 Q87.0 Orphanet 58 ORPHA141132 MedGen 41 C3495417 SNOMED-CT via HPO 68 128602000 15253005 16507009 197811007 204099004 204108000 204942005 204962002 205456006 22066006 228156007 230745008 247578003 253184003 253549006 254025006 263681008 30288003 32958008 35045004 40159009 42376006 44057004 5102002 5131000119107 57436000 60700002 61142002 63567004 68359008 7183006 7305005 80281008 80825009 82525005 83330001 86299006 87979003 91138005 92097004 95575002 more UMLS 71 C0220681 C0265240

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...

Clinical features from OMIM:

164210

Search NIH Clinical Center for Hemifacial Microsomia

Search GEO for disease gene expression data for Hemifacial Microsomia.