Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
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 April 2024
Newly diagnosed with
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.