Bamforth–Lazarus syndrome

Also known as: Thyroid dysgenesis with cleft palate and spiky hair

Congenital hypothyroidism with cleft palate, choanal atresia and spiky hair.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Thyroid disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: FOXE1

Etiology & mechanism

FOXE1 variants.

Gene(s) involved (1)

FOXE1

Symptoms & signs (6)

bifid epiglottischoanal atresiacleft palatecongenital hypothyroidismspiky hairthyroid agenesis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.