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Goldenhar syndrome

Craniofacial microsomia-1 (CFM1) is an autosomal dominant disorder characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts, in addition to skeletal and cardiac abnormalities. Inter- and intrafamilial variability has been observed (Timberlake et al., 2021). 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). Genetic Heterogeneity of Craniofacial Microsomia CFM2 (620444) is caused by mutation in the FOXI3 gene (612351) on chromosome 2p11. See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum. Another disorder that overlaps clinically with CFM is Townes-Brocks syndrome (TBS; 107480). Reviews Ronde et al. (2023) reviewed the international classification and clinical management strategies for craniofacial microsomia and microtia, and tabulated survey responses from 57 professionals involved in management of CFM patients. The authors noted that although the International Consortium for Health Outcomes Measurement (ICHOM) criteria for CFM exclude isolated microtia from the phenotypic spectrum of CFM, the question of whether isolated microtia can be considered the mildest form of CFM is debated in the literature. No consensus was reached in their survey, as a majority of respondents agreed with the ICHOM criteria but also considered isolated microtia to be a mild form of CFM. In addition, the authors noted that although vertebral, cardiac, and renal anomalies have been reported in CFM patients, there was no consensus on screening for such extracraniofacial anomalies. [from OMIM]

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Congenital Abnormality

Maxillozygomatic hypoplasia

Hypoplasia of the maxillozygomatic complex. [from HPO]

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