Living with Birk-Barel syndrome
A rare genetic condition with weak muscle tone from birth, feeding trouble, and delays in speech and movement.
Understanding Birk-Barel syndrome
Babies may be sleepy, have a weak cry, and move less than usual. Facial weakness and a poor suck cause feeding trouble and slow weight gain. Swallowing problems often last into the teen years. Muscle tone may improve, but some weakness usually remains in adulthood. It also involves intellectual disability, delayed speech and motor skills, and distinct facial features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone from birth (hypotonia)
- Feeding difficulties
- Delays in overall development
- Small lower jaw (micrognathia)
- High, narrow palate
- Muscle weakness that tires easily
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.
- 3Consider genetic testing
Changes in KCNK9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 KCNK9 Foundation
- 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 the KCNK9 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: birk-barel intellectual disability dysmorphism syndrome; intellectual disability birk-barel type; intellectual disability-hypotonia-facial dysmorphism syndrome; intellectual disability, birk-barel type; intellectual disability, hypotonia, facial dysmorphism syndrome; kcnk9 (potassium two pore domain channel subfamily k member 9) imprinting syndrome
Patient organizations
- KCNK9 FoundationBirk-Barel syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Birk-Barel syndrome.
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