Living with Microcephaly-deafness-intellectual disability syndrome
A rare condition with a small head, hearing loss, intellectual disability, and certain facial features.
Understanding Microcephaly-deafness-intellectual disability syndrome
People with this syndrome have a small head (microcephaly), deafness, and intellectual disability. They also have certain facial features, such as uneven facial shape, low-set ears, and a small lower jaw. GARD says it has been described in a mother and her son. Signs are seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Intellectual disability
- Hearing loss from inner ear changes (sensorineural)
- Short stature
- Small lower jaw (micrognathia)
- Low-set ears
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 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); 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
Changes in genes (also called variants) cause this syndrome, and it is probably inherited in an autosomal dominant way. This means a changed copy of the gene from one parent can be enough to cause it.
Also known as: kawashima tsuji syndrome; kawashima-tsuji syndrome; microcephaly with deafness and intellectual disability syndrome; microcephaly-hearing loss-intellectual disability 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 Microcephaly-deafness-intellectual disability syndrome.
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