Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

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Synonyms: RHOA-related mosaic ectodermal dysplasia

A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko symmetric or asymmetric facial dysmorphism and body asymmetry in association with ocular dental and acral anomalies. Reported manifestations include microphthalmia strabismus myopia oligodontia microdontia conical teeth abnormal enamel brachydactyly syndactyly and broad first toe as well as dysmorphic facial features such as downslanting palpebral fissures broad nasal bridge malar hypoplasia and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies?

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