What is DeSanto-Shinawi Syndrome Due To WAC Point Mutation?

DeSanto-Shinawi Syndrome Due To WAC Point Mutation (DeSanto-Shinawi Syndrome Due To WAC Point Mutation) is a rare condition. See the cited references on this page and discuss your situation with a specialist.

What are the symptoms of DeSanto-Shinawi Syndrome Due To WAC Point Mutation?

Symptoms of DeSanto-Shinawi Syndrome Due To WAC Point Mutation vary by person. Review a cited overview and discuss your own symptoms with a clinician who treats DeSanto-Shinawi Syndrome Due To WAC Point Mutation.

Are there clinical trials for DeSanto-Shinawi Syndrome Due To WAC Point Mutation?

Tomeko shows live, recruiting DeSanto-Shinawi Syndrome Due To WAC Point Mutation studies from ClinicalTrials.gov on the hub.

DeSanto-Shinawi Syndrome Due To WAC Point Mutation: symptoms, treatment & specialists

Q: How is DeSanto-Shinawi Syndrome Due To WAC Point Mutation treated?

DeSanto-Shinawi Syndrome Due To WAC Point Mutation is managed by specialists and care centers; treatment is individualized. Use Tomeko to find DeSanto-Shinawi Syndrome Due To WAC Point Mutation specialists and Centers of Excellence.

Q: Where can I find a DeSanto-Shinawi Syndrome Due To WAC Point Mutation specialist?

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Medical Overview of DeSanto-Shinawi Syndrome Due To WAC Point Mutation

Sources cited

State of Disease · Prevalence / incidence

<1 / 1 000 000 — Point prevalence · Worldwide (Validated)

Source: ORPHANET 27119754 — via Orphanet (orphadata.com), CC-BY 4.0 · cited, never invented.

Gene / DefectWAC

InheritanceAutosomal dominant

Hallmark SymptomsAbnormal facial shape, Atypical behavior, Global developmental delay, Intellectual disability, Intellectual disability, mild, Motor delay, Abnormality of the respiratory system, Abnormality of vision

Also known as: Desanto-Shinawi syndrome due to WAC point mutation
Classification & codes: GARD 0017839 · Orphanet ORPHA:466950 · OMIM 616708 · ICD-10 Q87.8

Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.

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New in DeSanto-Shinawi Syndrome Due To WAC Point Mutation research · 2026

ALYFTREK shows positive Phase 3 results in children ages 2–5

Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.

Real, verifiedPediatric

Source: Vertex Pharmaceuticals newsroom · linked

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Community Discussion · in Parent Caregivers · 4 hours ago

Airway clearance routines that actually work for teens

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Clinical Trial Match · Recommended for you

3 open trials match this profile

Locations in NC, FL and GA.

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Source: ClinicalTrials.gov · linked

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Care & management overview — DeSanto-Shinawi Syndrome Due To WAC Point Mutation

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Plain-language guidance for the people around someone with DeSanto-Shinawi Syndrome Due To WAC Point Mutation — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.

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TeacherA student may need accommodations — rest breaks, bathroom access, flexible deadlines, or a place for medication. Keep the care plan handy, know the warning signs, and treat the student as capable — most want to be included, not singled out.

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CoachAsk the family what activity is safe and what to watch for. Have an emergency plan and the family's contacts on hand. Build in rest and hydration, and adapt drills so they can take part.

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Biopharma companies with registered trials for DeSanto-Shinawi Syndrome Due To WAC Point Mutation — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.

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Coping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with DeSanto-Shinawi Syndrome Due To WAC Point Mutation — for patients and caregivers alike.

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504 & IEP Accommodations Checklist

Extra restroom access, without needing to ask permission each time Water bottle / hydration access at the desk, all day Modified PE or rest breaks on high-symptom days A clear plan for missed school days due to illness or clinic visits Enzyme and medication administration documented in the school health plan Extended time or a separate room for testing, if needed A way for schoolwork to come home during extended absences Staff trained to recognize a respiratory emergency A named point of contact for annual 504/IEP plan reviews

Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

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DeSanto-Shinawi Syndrome Due To WAC Point Mutation Pharmaceutical Issues — Drug-Drug Interactions and BeyondJake Brockmeyer, PharmD

Grand Rounds & CME — DeSanto-Shinawi Syndrome Due To WAC Point MutationManu Jain, MD

Clinical management — DeSanto-Shinawi Syndrome Due To WAC Point MutationKevin Scully, MB BCh BAO

Multidisciplinary care — DeSanto-Shinawi Syndrome Due To WAC Point MutationSigrid Barrett, PhD, RN

Panel: Impacts of Aging with DeSanto-Shinawi Syndrome Due To WAC Point MutationUluer · Desch · Brace · Mentch

The Bloom Effect: How Resilience Transforms UsKimberly Morse, MSW, LCSW

DeSanto-Shinawi Syndrome Due To WAC Point Mutation in the Context of the ExposomeGabriela Oates, PhD

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Boston Children's HospitalBoston, MA

Children's Hospital of PhiladelphiaPhiladelphia, PA

Cincinnati Children's HospitalCincinnati, OH

Stanford / Lucile Packard Children'sPalo Alto, CA

Johns HopkinsBaltimore, MD

Texas Children's HospitalHouston, TX

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Financial Guidance CompassFree, personalized care-coordination and financial-guidance service for people with DeSanto-Shinawi Syndrome Due To WAC Point Mutation and their families.

HealthWell FoundationCopay and insurance-premium assistance for DeSanto-Shinawi Syndrome Due To WAC Point Mutation treatments.

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Patient Access Network FoundationHelps cover out-of-pocket costs for DeSanto-Shinawi Syndrome Due To WAC Point Mutation medications.

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2026 State of the Disease ReportPDF · updated 2026

An annual snapshot of DeSanto-Shinawi Syndrome Due To WAC Point Mutation research, treatment access and outcomes, written in plain language for patients and families.

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Getting Started PackPDF guide

Practical starting points and things to plan for in the first year after diagnosis.

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Daily Management GuidePDF · illustrated

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College & Career PlanningPDF guide

Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with DeSanto-Shinawi Syndrome Due To WAC Point Mutation.

Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.

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Medical Overview of DeSanto-Shinawi Syndrome Due To WAC Point Mutation

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ALYFTREK shows positive Phase 3 results in children ages 2–5

Airway clearance routines that actually work for teens

3 open trials match this profile

DeSanto-Shinawi Syndrome Due To WAC Point Mutation Family Conference

Care & management overview — DeSanto-Shinawi Syndrome Due To WAC Point Mutation

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