Living with Teebi hypertelorism syndrome 1
A rare genetic condition with wide-set eyes, cleft lip, ear pits, and other body differences present at birth.
Understanding Teebi hypertelorism syndrome 1
Features include wide-set eyes (hypertelorism), a belly wall opening (omphalocele), cleft lip, ear pits, and a heart-shaped uterus. Some people also have a diaphragm hernia or heart differences. Facial features may include a prominent forehead and a round face. Signs are seen in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide-set eyes
- Prominent forehead and nasal bridge
- Cleft lip
- Pits in front of the ears
- Webbed or short fingers and toes
- Drooping upper eyelid
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in SPECC1L 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 the SPECC1L gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: brachycephalofrontonasal dysplasia; craniofrontonasal dysplasia, teebi type; specc1l-related hypertelorism syndrome; teebi hypertelorism 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 Teebi hypertelorism syndrome 1.
Explore research for Teebi hypertelorism syndrome 1
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