Pterygium colli-intellectual disability-digital anomalies syndrome
Synonyms: Khalifa-Graham syndrome
A rare disorder characterized by pterygium colli digital anomalies (abnormal small thumbs widened interphalangeal joints and broad terminal phalanges) and craniofacial abnormalities (brachycephaly epicanthic folds angulated eyebrows upward slanting of the palpebral fissures ptosis hypertelorism and prominent low-set posteriorly rotated ears). It has been described in a woman and her son but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
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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Pterygium colli-intellectual disability-digital anomalies 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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