Living with Mesomelia-synostoses syndrome
A rare inherited bone condition with short middle sections of the limbs, fused bones, and facial and palate differences.
Understanding Mesomelia-synostoses syndrome
People have a distinct facial look and differences of the soft palate. Bones in the arms, legs, hands, and feet may be fused. It starts in pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short middle sections of the arms and legs (mesomelia)
- Fused bones in the hands and feet
- Fused wrist bones
- Joint stiffness
- Drooping upper eyelids (ptosis)
- High, narrow palate
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: 8q13 microdeletion syndrome; chromosome 8q13 deletion syndrome; del(8)q(13); mesomelia synostoses syndrome verloes david pfeiffer type; mesomelia-synostoses syndrome, verloes-david-pfeiffer type; mesomelic dysplasia with acral synostoses verloes david pfeiffer type
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mesomelia-synostoses syndrome.
Explore research for Mesomelia-synostoses syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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