Living with Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
A rare inherited bone condition with short height that starts before birth, with a short neck and small chest.
Understanding Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Growth is slower than usual before birth. People have short height with short upper arms and legs, facial differences, a short neck, and a small chest. Low muscle tone, an enlarged heart, and global developmental delay have also been reported. X-rays show several bone differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before and after birth
- Narrow chest and short ribs
- Severely flattened spine bones (platyspondyly)
- Short long bones
- Small size for gestational age
- Delayed bone maturation
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.
- 3Consider genetic testing
Changes in PAM16 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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
It is caused by changes in the PAM16 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spondylometaphyseal dysplasia, mégarbané type; pam16 spondylodysplastic dysplasia; spondylodysplastic dysplasia caused by mutation in pam16; spondylometaphyseal dysplasia, megarbane-dagher-melike type; spondylometaphyseal dysplasia, megarbane-dagher-melki type
Patient organizations
- Little People of AmericaAutosomal recessive spondylometaphyseal dysplasia, Megarbane type · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive spondylometaphyseal dysplasia, Megarbane type.
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