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 April 2024
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Hypotonia-cystinuria syndrome?
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Louisiana Metabolic Disorders Coalition
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Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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