Living with Borjeson-Forssman-Lehmann syndrome
A genetic condition, mostly in males, with intellectual disability, obesity, seizures, and distinct facial features.
Understanding Borjeson-Forssman-Lehmann syndrome
It is noticed at birth. It also involves low sex hormone activity (hypogonadism) and distinct facial features. Symptoms vary, even within a family. It is fully expressed mostly in males.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone and feeding problems in infancy
- Low sex hormone activity (hypogonadism)
- Coarse facial features and deep-set eyes
- Narrow eyelid opening and drooping eyelids
- Tapered fingers and short toes
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in PHF6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 BFLS Incorporated and other patient organizations
- 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 PHF6 gene on the X chromosome cause this condition. It is usually X-linked recessive, so it is fully expressed mostly in males.
Also known as: bfls; borj; borjeson syndrome; borjeson-forssman-lehmann syndrome, x-linked recessive; börjeson-forssman-lehman syndrome; intellectual deficiency-epilepsy-endocrine disorders syndrome
Patient organizations
- BFLS IncorporatedBorjeson-Forssman-Lehmann syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Borjeson-Forssman-Lehmann syndrome.
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