Synonyms: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome | Laband syndrome
A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis coarse facial appearance and absence or hypoplasia of nails or terminal phalanges of hands and feet.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
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Cure KCNH1 Foundation
Cure KCNH1 Foundation is a patient advocacy organization dedicated to raising awareness about KCNH1 genetic disorders and improving the lives of children and families by advancing research in the search for better treatment options and a cure.
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 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.
For a list of clinical trials in this disease area, please click here.