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Endocrinology · Endocrinology / Thyroid disorders

Bamforth–Lazarus syndrome

also: Thyroid dysgenesis with cleft palate and spiky hair

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

Specialty
Endocrinology
Subspecialty
Endocrinology / Thyroid disorders
Sex & age distribution
Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved
FOXE1
Alternative names & eponyms
Thyroid dysgenesis with cleft palate and spiky hair

Etiology & mechanism

FOXE1 variants.

Gene(s) involved (1)

Symptoms & signs (6)

In plain terms, someone with Bamforth–Lazarus syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

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