Bamforth-Lazarus syndrome
Findings
No curated finding names Bamforth-Lazarus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Definition from the Mondo Disease Ontology (MONDO:0009437), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral choanal atresiaHPOHP:0004502
- 2 of 2 reported patients
- Cleft palateHPOHP:0000175
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Congenital hypothyroidismHPOHP:0000851
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating T4 concentrationHPOHP:0031507
- 5 of 5 reported patients
- Decreased circulating thyroglobulin concentrationHPOHP:6000244
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
Show the remaining 10
- Abnormal hair quantityHPOHP:0011362
- Very frequent (80% to 99% of cases)
- Choanal atresiaHPOHP:0000453
- 2 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FOXE1HGNC:3806
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: Bamforth-Lazarus syndrome
- Also called
- Athyroidal hypothyroidism-spiky hair-cleft palate syndromeBamforth syndromehypothyroidism-cleft palate syndrome