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2p21 microdeletion syndrome without cystinuria
Disease definition
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.
ORPHA:369881
Classification level: Disorder- Synonym(s):
- Del(2)(p21) without cystinuria
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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