Living with Spondyloepiphyseal dysplasia, MacDermot type
A rare bone condition with short stature, hip bone changes, and hearing loss from inner ear nerve damage.
Understanding Spondyloepiphyseal dysplasia, MacDermot type
People have short stature and changes in the ends of the thigh bones (femoral epiphyseal dysplasia). There are mild changes in the spine bones. They also have sensorineural deafness, which is hearing loss from the inner ear or its nerve. Signs may begin in the newborn or infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Short stature
- Changes at the ends of the thigh bones
- Mild changes in the spine bones
- Hearing loss (sensorineural deafness)
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, 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); 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 (variants) cause this condition. It is autosomal dominant, meaning one changed copy of a gene can cause it. GARD doesn't list which gene.
Also known as: spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome; spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome; spondyloepiphyseal dysplasia, myopia, and sensorineural deafness
Patient organizations
- Little People of AmericaSpondyloepiphyseal dysplasia, MacDermot type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia, MacDermot type.
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