Endocrinology · Endocrinology / Thyroid disorders
Brain–lung–thyroid syndrome
also: NKX2-1-related disorder
Congenital hypothyroidism, respiratory distress and chorea.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Thyroid disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, neonatal
- Gene(s) involved
- NKX2-1
- Alternative names & eponyms
- NKX2-1-related disorder
Etiology & mechanism
NKX2-1 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Brain–lung–thyroid 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
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Joubert syndrome
developmental delay, hypotonia
2 shared
Kabuki syndrome
developmental delay, hypotonia
2 shared
Phelan–McDermid syndrome
developmental delay, hypotonia
2 shared
Ritscher–Schinzel syndrome
developmental delay, hypotonia
2 shared
Sotos syndrome
developmental delay, hypotonia
1 shared
Aicardi syndrome
developmental delay
1 shared
Allan–Herndon–Dudley syndrome
hypotonia
1 shared
Bamforth–Lazarus syndrome
congenital hypothyroidism
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Benedikt syndrome
chorea
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