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🔗 CustomizeMedical Overview of 20p13 Microdeletion Syndrome
Sources cited20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Classification & codes: GARD 0021360 · Orphanet ORPHA:313781 · ICD-10 Q93.5
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
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.
Airway clearance routines that actually work for teens
3 open trials match this profile
Locations in NC, FL and GA.
20p13 Microdeletion Syndrome Family Conference
Illustrative example event · location TBD
Care & management overview — 20p13 Microdeletion Syndrome
Educational programming; see the cited sources on this hub.
20p13 Microdeletion Syndrome News & Developments
The latest 20p13 Microdeletion Syndrome research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.
Recruiting trials
View all →Find a 20p13 Microdeletion Syndrome Specialist Near You
Sample results — illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.
Treatment & Daily Living
Medical care plus the everyday therapies and supports relevant to 20p13 Microdeletion Syndrome. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →
Media Center
News, podcasts, books & research for 20p13 Microdeletion Syndrome — real coverage, links out, never re-hosted.
Audience Guides
Plain-language guidance for the people around someone with 20p13 Microdeletion Syndrome — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.
Companies Developing Treatments
Biopharma companies with registered trials for 20p13 Microdeletion Syndrome — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
Tools
Every institution behind the faculty, with their affiliated experts.
Plain-language tools
For clinicians, nonprofits & industry partners.
Translates any dense medical text — papers, lab results, visit notes, jargon — into plain language.
Live on tomekohealth.com — not a demo mock-up.
Research Collaboration & Matching
Live on tomekohealth.com — not a demo mock-up.
Mental Health Toolkit
Sources citedCoping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with 20p13 Microdeletion Syndrome — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
Grand Rounds & Accredited Education
Open Questions
Ask the community →Anyone can ask. Sign in to answer. Peer support — not medical advice, and no PHI.
Survey
Reflect on how you are doing — anonymous, with only de-identified group averages shown.
Community & Support Groups
For people living with 20p13 Microdeletion Syndrome. Peer support, not medical advice; no PHI.
For caregivers and family navigating 20p13 Microdeletion Syndrome.
Recent From the Community
Certified Centers of Excellence
CFF networkCare centers and specialists for 20p13 Microdeletion Syndrome, from Tomeko’s verified provider directory (CMS NPPES).
Representative CFF centers — the official CFF directory has the complete, current list.
Nonprofits & Foundations
Grants & Financial Help
Representative programs — illustrative only. Eligibility and availability vary; not a guarantee of assistance.
Patient & Family Guides
Sources citedAn annual snapshot of 20p13 Microdeletion Syndrome research, treatment access and outcomes, written in plain language for patients and families.
Practical starting points and things to plan for in the first year after diagnosis.
Step-by-step guidance, what to expect, and a sample daily routine.
Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with 20p13 Microdeletion Syndrome.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.