Living with Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
A rare genetic syndrome with eyelid and eye muscle differences, joined toes, and short stature.
Understanding Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
It is noticed in newborns. Other features include weak eye and forehead muscles, a prominent lower jaw, and thick eyebrows that join in the middle.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrow eyelid opening (blepharophimosis)
- Drooping upper eyelids (ptosis)
- Eyes turning inward (esotropia)
- Short stature
- Thick eyebrows that meet in the middle
- Prominent lower jaw
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 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
- 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. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: blepharophimosis with ptosis, syndactyly, and short stature; frydman-cohen-karmon 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 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome.
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