Living with Grubben-de Cock-Borghgraef syndrome
A rare syndrome with slow growth, low muscle tone, delayed speech, small puffy hands and feet, and eczema.
Understanding Grubben-de Cock-Borghgraef syndrome
Features include low muscle tone, developmental delay (especially speech and language), thin lower arms and legs, small and puffy hands and feet, eczema-like skin, and tooth differences such as small, widely spaced teeth. Some people have a partly missing corpus callosum (the band joining the two sides of the brain) and low levels of an immune protein (IgG2). It is noticed during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Global developmental delay
- Low muscle tone (hypotonia)
- Eczema and dry skin
- Tooth differences
- Partly missing corpus callosum
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, 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); 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 cause this condition. GARD does not name the gene or describe how it is inherited.
Also known as: developmental delay-hypotonia-extremities hypertrophy syndrome; developmental delay, hypotonia, extremities hypertrophy syndrome; grubben, de cock, borghgraef syndrome; severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin
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 Grubben-de Cock-Borghgraef syndrome.
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