What is Desanto-Shinawi syndrome?
Desanto-Shinawi syndrome is a rare neurodevelopmental disorder first identified in 2016 in six families.
The syndrome presents with several distinct facial features and behavioral issues.
Generally, the main symptoms are identified in infancy and childhood and include global developmental delay, low muscle tone, and feeding problems.
Syndrome Synonyms:
Developmental delay, Behavioral abnormalities, Facial dysmorphism, and Ocular Abnormalities
What gene change causes Desanto-Shinawi syndrome?
Mutations in the WAC gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Some patients with Chromosome 10p12-p11 deletion syndrome may exhibit overlapping of features, as this chromosomal deletion syndrome encompasses contiguous genes, often involving WAC gene.
What are the main symptoms of Desanto-Shinawi syndrome?
- One of the main and earliest identified symptoms of the syndrome is global developmental delay, which is usually noticed in childhood.
- Hypotonia (low muscle tone) and feeding problems are also often common in infancy and early childhood.
- Unique facial features of the syndrome include a short neck, broad forehead, deep set eyes, thick eyebrows, strabismus (cross eyes), widely spaced eyes, a depressed nasal bridge, and mild eye abnormalities including astigmatism.
- Hirsutism and excessive hair growth have also been related to the syndrome.
- Behavioral issues related to the syndrome include anxiety, ADD, ADHD, and autism spectrum disorder.
How is it diagnosed?
To find out if someone has a diagnosis of Desanto-Shinawi syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
