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 September 2023.
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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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
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