2p21 microdeletion syndrome without cystinuria

2p21 microdeletion syndrome without cystinuria is a rare condition caused by a small deletion on one copy of chromosome 2. This deletion leads to a range of signs including weak fetal movements, low muscle tone (hypotonia) in infants, and feeding difficulties that tend to improve over time. There are also urogenital differences and distinct facial features such as a long head shape (dolichocephaly), a protruding forehead (frontal bossing), droopy eyelids (ptosis), and changes in the midface structure. People with this condition may also experience developmental delays and mild intellectual disability.

Common symptoms in affected individuals include weak fetal movements, severe infantile hypotonia, feeding difficulties (which usually improve with time), urogenital abnormalities (such as hypospadias in males or hypoplastic labia majora in females), global developmental delays, mild intellectual disability, and distinct facial characteristics including frontal bossing, bilateral ptosis, midface retrusion, and an open mouth with a tented upper lip vermilion. Additionally, there is a borderline increase in serum lactate levels without the presence of cystinuria.

This condition is caused by a microdeletion on the short arm of chromosome 2, which leads to the loss of a small segment of genetic material. This genetic change results in an incomplete set of copies for some genes, leading to the features seen in the syndrome. No specific genes have been identified as solely responsible, and the exact genetic details are still being studied.

Information about treatment is currently limited for this condition.

Affected individuals may see an improvement in feeding difficulties and muscle tone over time. However, developmental delays and other challenges may persist. The overall outlook varies from person to person and information on long-term quality of life remains limited.

Information about research is currently limited for this condition.