Brain–lung–thyroid syndrome

Also known as: NKX2-1-related disorder

Congenital hypothyroidism, respiratory distress and chorea.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Thyroid disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: NKX2-1

Etiology & mechanism

NKX2-1 haploinsufficiency.

Gene(s) involved (1)

NKX2-1

Symptoms & signs (6)

choreacongenital hypothyroidismdevelopmental delayhypotonianeonatal respiratory distressrecurrent lung infections

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