DNAPS Meaning and
Definition
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DNAPS is an acronym for "Deoxyribonucleic Acid Appearance Phenotype Syndrome". It refers to an extremely rare genetic disorder characterized by the presence of distinctive physical features and abnormalities attributed to mutations in genes involved in DNA synthesis. DNAPS is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the condition.
Individuals with DNAPS often exhibit a range of phenotypic characteristics, including intellectual disability, growth retardation, abnormal facial features, microcephaly (abnormally small head size), low birth weight, and skeletal abnormalities. Additional signs and symptoms may include intellectual and developmental delays, seizures, joint contractures, and genitourinary malformations. The severity and exact presentation of DNAPS can vary widely among affected individuals.
The genetic mutations implicated in DNAPS involve genes responsible for guiding the cellular machinery involved in DNA replication and synthesis. This disruption of DNA synthesis leads to the observed abnormalities in physical development and functioning associated with DNAPS.
Due to the extremely rare nature of DNAPS, its prevalence and incidence rates are not well established. Diagnosis is often challenging and requires comprehensive clinical assessment, including genetic testing to confirm the presence of specific gene mutations associated with DNAPS. Management of DNAPS typically focuses on addressing the individual symptoms and medical issues present in affected individuals, through a multidisciplinary approach involving various healthcare professionals.
Common Misspellings for DNAPS
- xnaps
- dnzps
- dnqps
- dnaos
- dna0s
- dnapx
- sdnaps
- dsnaps
- xdnaps
- dxnaps
- dcnaps
- fdnaps
- dfnaps
- rdnaps
- drnaps
- ednaps
- denaps
- dbnaps
- dnbaps
- dmnaps
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