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 2026
Newly diagnosed with
2p21 microdeletion syndrome without cystinuria?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
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