Hypotonia-cystinuria syndrome

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Hypotonia-cystinuria syndrome

Synonyms: HCS

A rare genetic disorder of amino acid absorption and transport characterized by generalized hypotonia at birth neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood) cystinuria type 1 nephrolithiasis growth retardation due to growth hormone deficiency and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.

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 October 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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