Adams-Nance Syndrome, also known as Nance-Horan Syndrome, is a rare genetic disorder characterized by facial abnormalities, mental retardation, and visual impairments. It is caused by mutations in the NDP gene, which is responsible for the production of a protein called nystagmus-associated protein.
The mindmap/concept map will also help you in remembering the important concepts of Adams–Nance Syndrome very clearly during exams
Adams–Nance Syndrome : [MEDNOTES+MINDMAP]
- Adams–Nance Syndrome is a rare genetic disorder that affects the development and function of the nervous system.
- The prevalence of Adams–Nance Syndrome is unknown, but it is thought to be rare.
- Caused by mutations in the NALCN gene, which is inherited in an autosomal recessive pattern.
- Symptoms typically appear in the first few months of life.
- Affected individuals may have intellectual disability, developmental delays, and abnormal muscle tone.
- They may also have problems with feeding, breathing, and movements.
- The severity of the symptoms can vary widely among individuals
- Adams–Nance Syndrome can be classified based on the severity of the symptoms.
- Some individuals may have mild symptoms while others may have severe symptoms.
- The condition can also be classified based on the specific symptoms that are present.
- For example, some individuals may have problems with feeding and breathing, while others may have more severe intellectual disability.
- Family history of Adams–Nance Syndrome
- Mutation in the FBN1 gene
- Mutation in the FBN1 gene, which codes for the protein fibrillin-1
- Fibrillin-1 is responsible for proper development and function of connective tissue in the body
- Microcephaly (small head size)
- Facial abnormalities (including wide-set eyes, small jaw, and narrow palate)
- Skeletal abnormalities (including short stature, scoliosis, and joint contractures)
- Intellectual disability
- Developmental delays
- Vision problems
- Heart defects
- The mutation in the FBN1 gene leads to abnormalities in the connective tissue, resulting in the physical and cognitive symptoms of Adams–Nance Syndrome.
- These abnormalities can affect various systems in the body, including the skeletal, cardiovascular, and neurological systems.
- Diagnosis/Laboratory Diagnosis:
- Typically diagnosed in infancy or early childhood
- Diagnosed through physical examination and genetic testing
- Tests Required:
- Genetic testing to confirm diagnosis
- X-rays to assess bone abnormalities
- CT/MRI scans to assess brain and facial abnormalities
- Associated with/Strongly Associated with:
- Mutation in the TNXB gene
- Autosomal recessive inheritance pattern
- Similar diseases/syndromes:
- Ehlers-Danlos syndrome
- Marfan syndrome
- Physical therapy to address muscle and joint abnormalities
- Orthopedic surgery for severe bone abnormalities
- Speech therapy to address communication difficulties
- Genetic counseling for family planning purposes