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🔗 CustomizeMedical Overview of Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Sources citedA rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.
Classification & codes: GARD 0024706 · Orphanet ORPHA:642099 · OMIM 271640 · ICD-10 Q77.7
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.
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures Family Conference
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Care & management overview — Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Educational programming; see the cited sources on this hub.
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures News & Developments
The latest Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures 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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Treatment & Daily Living
Medical care plus the everyday therapies and supports relevant to Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →
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Audience Guides
Plain-language guidance for the people around someone with Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures — 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 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures — 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.
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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 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Community & Support Groups
For people living with Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures. Peer support, not medical advice; no PHI.
For caregivers and family navigating Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures.
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Certified Centers of Excellence
CFF networkCare centers and specialists for Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures, from Tomeko’s verified provider directory (CMS NPPES).
Representative CFF centers — the official CFF directory has the complete, current list.
Nonprofits & Foundations
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Patient & Family Guides
Sources citedAn annual snapshot of Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures 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 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.