Ablepharon macrostomia syndrome
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon macrostomia abnormal external ears syndactyly of the hands and feet skin findings (such as dry and coarse skin or redundant folds of skin) absent or sparse hair genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia absent or hypoplastic nipples umbilical abnormalities and growth retardation. It is a mainly sporadic disorder although a few familial cases having been reported and it displays significant clinical overlap with Fraser syndrome.
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
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Ablepharon macrostomia syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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