Living with Hennekam-Beemer syndrome
A rare syndrome present from birth that affects the skin, head size, hearing, muscles, and bones.
Understanding Hennekam-Beemer syndrome
Features include cutaneous mastocytosis (a skin condition from too many mast cells), a small head, small or differently shaped ears, and hearing loss. People may have low muscle tone and bone differences such as curved fingers and scoliosis. Short stature and intellectual disability are also common. It starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Hearing loss
- Skin color changes and itching
- Hives and firm skin lumps
- Small lower jaw (micrognathia)
- Slow weight gain (failure to thrive)
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 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); 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 (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cutaneous mastocytosis, conductive hearing loss and microtia; mastocytosis-short stature-deafness syndrome; mastocytosis-short stature-hearing loss 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 Hennekam-Beemer syndrome.
Explore research for Hennekam-Beemer syndrome
Explore actively recruiting Hennekam-Beemer syndrome studies with HealthSpark.
Find actively recruiting studies for Hennekam-Beemer syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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