Schinzel-Giedion syndrome

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Schinzel-Giedion syndrome

Synonyms: SGS

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism hydronephrosis severe developmental delay typical skeletal malformations and genital and cardiac anomalies.

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 Data version February 2024

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Schinzel-Giedion syndrome?

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Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

Schinzel-Giedion Syndrome Fourdation

The Schinzel-Giedion Syndrome Foundation, a registered UK charity, represents the approx. 120 SGS patients currently identified around the world. Our mission is to provide support to families caring for a child with SGS, raise awareness of SGS, and facilitate & support medical research that will help us find better treatments to improve the quality and length of life of children living with SGS.

Clinical Trials

For a list of clinical trials in this disease area, please click here.