Living with Teebi-Shaltout syndrome
A rare genetic condition with distinct facial features, missing teeth, sparse hair, and bone differences.
Understanding Teebi-Shaltout syndrome
Facial features include a narrow forehead, wide-set eyes, a broad nose, and a small or wide mouth, sometimes with a cleft palate. Ectodermal differences include fewer teeth with late tooth eruption, slow-growing hair, and less sweating. Bone differences include bent fingers and a small tail-like growth at the base of the spine. Short stature occurs too. Signs may begin in the newborn or infant years.
Signs & symptoms
GARD lists less common symptoms only. The summary describes:
- Distinct facial features
- Fewer teeth with late tooth eruption
- Slow-growing hair
- Reduced sweating
- Bent fingers (camptodactyly)
- Short stature
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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 genes (variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Also known as: craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage; teebi shaltout syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Teebi-Shaltout syndrome.
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