Living with Bamforth-Lazarus syndrome
A very rare condition present from birth with an underactive thyroid, cleft palate, and spiky hair.
Understanding Bamforth-Lazarus syndrome
The thyroid gland is poorly formed or missing, which causes congenital hypothyroidism. Some babies also have a blocked back opening of the nose (choanal atresia) or a split flap in the throat (bifid epiglottis). Facial differences and a brain difference called porencephaly have been reported in a few people. Signs are seen during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive thyroid from birth (congenital hypothyroidism)
- Missing or poorly formed thyroid
- Cleft palate
- Blocked back opening of the nose (choanal atresia)
- Receding chin (retrognathia)
- Intellectual disability
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 ear, nose, and throat specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in FOXE1 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
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: World Craniofacial 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 World Craniofacial Foundation 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
It is caused by changes in the FOXE1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: athyroidal hypothyroidism with spiky hair and cleft palate; athyroidal hypothyroidism with spiky hair and cleft palate syndrome; athyroidal hypothyroidism-spiky hair-cleft palate syndrome; bamforth lazarus syndrome; bamforth syndrome; hypothyroidism and cleft palate syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Bamforth-Lazarus syndrome.
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