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🔗 CustomizeMedical Overview of Chromosome 22q11.2 Deletion Syndrome, Distal
Sources citedA rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>.
Classification & codes: GARD 0017245 · Orphanet ORPHA:261330 · OMIM 611867 · 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.
Chromosome 22q11.2 Deletion Syndrome, Distal Family Conference
Illustrative example event · location TBD
Care & management overview — Chromosome 22q11.2 Deletion Syndrome, Distal
Educational programming; see the cited sources on this hub.
Chromosome 22q11.2 Deletion Syndrome, Distal News & Developments
The latest Chromosome 22q11.2 Deletion Syndrome, Distal research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.
Recruiting trials
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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 Chromosome 22q11.2 Deletion Syndrome, Distal. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →
Media Center
News, podcasts, books & research for Chromosome 22q11.2 Deletion Syndrome, Distal — real coverage, links out, never re-hosted.
Audience Guides
Plain-language guidance for the people around someone with Chromosome 22q11.2 Deletion Syndrome, Distal — 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 Chromosome 22q11.2 Deletion Syndrome, Distal — 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
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Research Collaboration & Matching
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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 Chromosome 22q11.2 Deletion Syndrome, Distal — 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
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Survey
Reflect on how you are doing — anonymous, with only de-identified group averages shown.
Community & Support Groups
For people living with Chromosome 22q11.2 Deletion Syndrome, Distal. Peer support, not medical advice; no PHI.
For caregivers and family navigating Chromosome 22q11.2 Deletion Syndrome, Distal.
Recent From the Community
Certified Centers of Excellence
CFF networkCare centers and specialists for Chromosome 22q11.2 Deletion Syndrome, Distal, 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 Chromosome 22q11.2 Deletion Syndrome, Distal 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 Chromosome 22q11.2 Deletion Syndrome, Distal.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.