Living with Deafness-intellectual disability, Martin-Probst type syndrome
A rare X-linked condition with hearing loss from birth, intellectual disability, short stature, and distinct facial features.
Understanding Deafness-intellectual disability, Martin-Probst type syndrome
Hearing loss is present from birth, and intellectual disability varies in degree. Other features include short stature and distinct facial and dental differences. Some people have a small head, kidney or genital differences, and low blood cell counts that start in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability (moderate to severe)
- Small head size (microcephaly)
- Nearsightedness (myopia)
- Cataracts
- Low blood cell counts (pancytopenia)
- Dental differences and bad bite
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 brain and nervous system specialists, ear, nose, and throat specialists, eye disease 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); 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 rare disease patient organizations for support
- 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
GARD says changes in genes cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: deafness and intellectual disability martin probst type syndrome; deafness-intellectual disability syndrome, martin-probst type; hearing loss-intellectual disability syndrome, martin-probst type; intellectual disability, x-linked, syndromic, martin-probst type; martin probst syndrome; martin-probst syndrome
Patient organizations
Rare-disease groups that can help
- 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 Deafness-intellectual disability, Martin-Probst type syndrome.
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