Living with Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
A rare inherited syndrome with short limbs, mild learning difficulty, and hearing loss from repeated ear infections.
Understanding Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Features include a bone growth difference at the ends of long bones, short limbs, mild intellectual disability, and hearing loss from the middle ear linked to repeated ear infections in childhood. It was described in three brothers born to parents who were related by blood. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short limbs
- Mild intellectual disability
- Hearing loss from the middle ear
- Repeated middle ear infections
- Bowed legs
- Loose 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, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Ear, nose, and throat specialists (otolaryngologists); 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome; metaphyseal dysostosis, impaired intellectual development, and conductive deafness
Patient organizations
- Little People of AmericaMetaphyseal dysostosis-intellectual disability-conductive deafness syndrome · United States
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Perspectives from people navigating life with Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome.
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