Developmental Anomalies
DeSanto-Shinawi Syndrome (DESSH)
IMPORTANT INFORMATION
The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.
There are currently no known organisations in Australia specifically for this rare disease. If you know of any rare disease organisation/s supporting people living with DeSanto-Shinawi Syndrome (DESSH), please let us know via the Contribute page. If you are interested in starting an Australian organisation for people living with DESSH, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.
If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or misleading information, please let us know via the Contribute page.
Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References
Emergency Management
There may be special considerations for the emergency management of individuals living with DeSanto-Shinawi Syndrome (DESSH) presenting to emergency departments.
Clinical Care Guidelines
Clinical Care Guidelines for DeSanto-Shinawi Syndrome (DESSH) are yet to be developed in Australia.
Synonyms
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome; WAC Syndrome
ORPHA:466943
ICD-10: Q87.0
Summary
DeSanto-Shinawi Syndrome (DESSH), also known as WAC Syndrome, is a genetic condition caused by defects in the WAC gene.1,2 WAC was identified as the causal gene in 20153, and the description of DESSH in medical literature is currently based on observations from a low number of individuals.1,2
Features that have been observed in DESSH individuals include developmental delay, some degree of intellectual disability, behavioural issues, and issues with vision.1-3 Babies may have low muscle tone (hypotonia), difficulties with feeding and constipation. Hearing loss, respiratory and kidney issues, seizures, certain facial features and inverted nipples have also been described in some individuals. It is important to note that these reported features may not be present in all DESSH individuals and may not be specific to DESSH; there are currently no formal clinical diagnostic criteria established for DESSH.1
Symptoms
Symptoms of DeSanto-Shinawi Syndrome (DESSH) may vary between individuals.
The following features have been reported in medical literature but are based on a low number of individuals.1,2 These observations may not be the case for every individual with DESSH and may not all be specific to DESSH.
- Low muscle tone in babies (hypotonia)
- Feeding difficulties in babies, as well as gastroesophageal reflux and/or constipation
- Developmental delay involving speech and motor skills
- Some degree of intellectual disability
- Behavioural issues, including anxiety, attention-deficit/hyperactivity disorder (ADHD), aggression, sleep disturbances, and autism spectrum disorder (ASD)
- Eye and vision issues, such as cortical visual impairment; eyes that do not align when looking at an object (strabismus), inability of eye to focus light (refractive errors) causing blurred vision
- Respiratory problems such as abnormal breathing patterns, asthma, recurrent infections
- Facial features, including square-shaped face, broad forehead, deep-set eyes, bushy eyebrows or unibrow (synophrys), broad chin and wide mouth (these features may not be specific enough and should not be used in diagnosis)
- Seizures
- Abnormalities such as shorter fingers or toes (brachydactyly), fleshy pads at the tips of their fingers (fetal finger pads) and flatfoot (planovalgus deformity of the feet)
- Inverted nipples
More information about these reported features can be found at GeneReviews®: WAC-Related Intellectual Disability (Clinical characteristics).
Please speak to your medical team to learn more about the symptoms of DESSH.
Cause/Inheritance
DeSanto-Shinawi Syndrome (DESSH) is a genetic condition, caused by a mutation in the WAC gene.3 Every individual normally has two copies of the WAC gene. A disease-causing (pathogenic) mutation in one copy of the WAC gene is enough to cause DESSH.2
Majority of the disease-causing (pathogenic) WAC mutations that have been discovered so far occur randomly and are not inherited (de novo).2 There is at least one presumed case of inherited DESSH through germline mosaicism1,2 – where a parent has the mutation only in cells that are passed on to the child (germ cells) but is unaffected as their other cells does not contain the mutation. Information about germline mosaicism can be found at: Factsheet: Mosaicism (NSW Government Health: Centre for Genetics Education)
If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.
Diagnosis
Diagnosis of DeSanto-Shinawi Syndrome (DESSH) may be based on identification of mutations in the WAC gene through genetic testing.1
There are currently no formal clinical diagnostic criteria established for DESSH.1
Differential diagnosis is often performed to rule out other conditions such as Prader-Willi Syndrome, Smith-Magenis Syndrome, Pitt-Hopkins Syndrome, Angelman Syndrome and Koolen-deVries Syndrome.1
Treatment
There is no curative treatment for DeSanto-Shinawi Syndrome (DESSH), but there are strategies to manage the symptoms, which may involve a multidisciplinary medical team.1 This may include physical therapy and use of assistive equipment to help with mobility, occupational and speech therapy, and use of augmentative and alternative communication (AAC) tools.1
It is also recommended that individuals with DESSH are monitored for, and referred to relevant specialists if necessary, for issues with their development, vision, hearing, feeding, breathing (respiratory), kidney, behaviour, and seizures.1 More information about these recommendations can be found at GeneReviews®: WAC-Related Intellectual Disability (Management).
Please speak with your medical team to learn more about management strategies for DESSH and its associated symptoms. Treatment will depend on an individual’s specific symptoms.
Clinical Care
Healthcare professionals involved in the treatment of DeSanto-Shinawi Syndrome (DESSH) may include general practitioners (GP), paediatricians, geneticists, gastroenterologists, neurologists, ophthalmologists, pulmonologists, nephrologists, physiotherapists, occupational therapists and speech therapists.1 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.
Research
Please visit Australian Clinical Trials to learn about clinical trials for DeSanto-Shinawi Syndrome (DESSH) in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for DESSH in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.
It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.
Rare Disease Organisation(s)
There are currently no known organisations for DeSanto-Shinawi Syndrome (DESSH) in Australia. If you are aware of any DESSH organisations in Australia, please let us know via the Contribute page.
International Organisation supporting DEESH:
THE DESSH FOUNDATION (United States)
Website: https://www.dessh.org/
Other organisations:
Genetics Alliance Australia (GAA), Genetic Support Network of Victoria (GSNV) and Syndromes Without A Name (SWAN) Australia may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific organisation in Australia.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Support Services/Resources
Please visit the National and State Services pages.
Mental Health
Please visit the ‘Mental Health’ sections listed on the National and State Services pages.
Other
Further information on DeSanto-Shinawi Syndrome (DESSH) can be found at:
References
- Varvagiannis V, de Vries BBA, Vissers LELM. WAC-Related Intellectual Disability [2017] In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. Gene Reviews® [Internet]. Seattle, University of Washington; 1993 [cited 2023 September 20]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK465012/
- OMIM – Online Mendelian Inheritance in Man. #616708 – DESANTO-SHINAWI SYNDROME; DESSH. Accessed 20 September 2023. https://omim.org/entry/616708
- DeSanto C, D’Aco K, Araujo GC, Shannon N, DDD Study, Vernon H, et al. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. [Internet]. 2015;52(11):754-61. Available from: https://doi.org/10.1136/jmedgenet-2015-103069
Page Last Updated
20/09/2023 12:47
