Living with Microcephaly-brachydactyly-kyphoscoliosis syndrome
A very rare inherited syndrome with a small head, short stature, short fingers, a curved spine, and profound intellectual disability.
Understanding Microcephaly-brachydactyly-kyphoscoliosis syndrome
People with this syndrome have profound intellectual disability, a small head (microcephaly), and short stature. Other features include short, broad fingers and toes (brachydactyly), certain facial features, and a spine that curves forward and sideways (kyphoscoliosis). GARD says it has been described in three sisters, and signs appear 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)
- Profound intellectual disability
- Short stature
- Curved spine (kyphoscoliosis)
- Clouding of the eye lens (cataract)
- Shuffling walk
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, 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
Changes in genes (also called variants) cause this syndrome, and it is likely inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: microcephalus with brachydactyly and kyphoscoliosis syndrome; microcephaly with brachydactyly and kyphoscoliosis syndrome; viljoen kallis voges syndrome; viljoen-kallis-voges 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-brachydactyly-kyphoscoliosis syndrome.
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