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DeSanto-Shinawi syndrome

Congenital Malformations and Chromosomal Abnormalities

DeSanto-Shinawi syndrome, or DESSH syndrome, is a rare genetic disorder caused by loss-of-function variants in the WAC gene. It was first described in 2015 in six individuals, and about 25 people had been reported in the medical literature when the article was written. It is marked by developmental delay, intellectual disability, low muscle tone, behavioural problems, distinctive facial features and gastrointestinal and eye abnormalities, and some people have seizures or congenital anomalies. Most cases arise as new variants and are not inherited, though the condition follows an autosomal dominant pattern. Diagnosis usually relies on exome sequencing. There is no cure, and care is symptomatic, with physical, occupational and speech therapy and input from several specialists.

Facts
First Described
2015 1
Prevalence Band
Rare (Under 1 in 2000) 1
Classification
Body System
Nervous System 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Connections

Treated By

Occupational Therapy, Treatments
Source DeSanto-Shinawi syndrome (Wikipedia)
Physical Therapy, Treatments
Source DeSanto-Shinawi syndrome (Wikipedia)
Speech-Language Therapy, Treatments
Source DeSanto-Shinawi syndrome (Wikipedia)
Sources
1. DeSanto-Shinawi syndrome (Wikipedia)
  • Lead
    DeSanto-Shinawi (DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in a gene called WW Domain-Containing Adaptor with Coiled-coil Region (WAC gene).
  • Lead, first described
    The condition was first described in 2015 in six individuals.
  • Lead, body system
    The condition is characterized by a variable degree of developmental delay and intellectual disability, decreased muscle tone (hypotonia), behavioral abnormalities, some facial differences and gastrointestinal and eye abnormalities.
View the Source
DeSanto-Shinawi syndrome (Wikipedia)
  • Treated By: Physical Therapy, Treatment
    Children with DESSH often require several forms of support, including physical therapy, occupational therapy and speech therapy.
  • Treated By: Occupational Therapy, Treatment, occupational therapy
    Children with DESSH often require several forms of support, including physical therapy, occupational therapy and speech therapy.
  • Treated By: Speech-Language Therapy, Treatment, speech therapy
    Children with DESSH often require several forms of support, including physical therapy, occupational therapy and speech therapy.
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