2p21 microdeletion syndrome without cystinuria
Synonyms: Del(2)(p21) without cystinuria
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements severe infantile hypotonia and feeding difficulties that spontaneously improve with time urogenital abnormalities (hypospadias or hypoplastic labia majora) global development delay mild intellectual disability and facial dysmorphism (dolichocephaly frontal bossing bilateral ptosis midface retrusion open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
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
Newly diagnosed with
2p21 microdeletion syndrome without cystinuria?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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