Living with Lenz-Majewski hyperostosis syndrome
A rare bone condition causing thick bones, slow growth, learning problems, and differences in the face, teeth, and limbs.
Understanding Lenz-Majewski hyperostosis syndrome
It involves delayed growth, intellectual disability, a distinct facial appearance, dental differences, loose skin, and differences in the hands and feet. It may be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skull bone (cranial hyperostosis)
- Delayed bone maturation
- Delayed closing of skull gaps (sutures)
- Broad forehead
- Big lower jaw
- Very flexible joints
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PTDSS1 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); Brain and nervous system specialists (neurologists); 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 PTDSS1 gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: hyperostotic dwarfism lenz-majewski type; lenz-majewski dysplasia; lenz-majewski hyperostotic dwarfism; lenz-majewski hyperostotic dysplasia; lenz-majewski syndrome; lmhd
Patient organizations
- Little People of AmericaLenz-Majewski hyperostosis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Lenz-Majewski hyperostosis syndrome.
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