Brain-lung-thyroid syndrome
- Synonyms
- CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Neepa Jayant Patel
- Joseph Jankovic
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (42 available)
Clinical features
Help- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the endocrine system
- Compensated hypothyroidism
Compensated hypothyroidism
- MedGen UID: 473011
- Concept ID: C0271790
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Congenital hypothyroidism
Congenital hypothyroidism
- MedGen UID: 41344
- Concept ID: C0010308
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Elevated circulating thyroid-stimulating hormone concentration
Elevated circulating thyroid-stimulating hormone concentration
- MedGen UID: 108325
- Concept ID: C0586553
- Finding: Finding
Abnormality of the endocrine system
- Compensated hypothyroidism
- Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Asthma
- Abnormality of the musculoskeletal system
- Difficulty walking
Difficulty walking
- MedGen UID: 86319
- Concept ID: C0311394
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Difficulty walking
- Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Choreoathetosis
Choreoathetosis
- MedGen UID: 39313
- Concept ID: C0085583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Gonadotropin deficiency
Gonadotropin deficiency
- MedGen UID: 1632671
- Concept ID: C4552011
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Sleep abnormality
Sleep abnormality
- MedGen UID: 52372
- Concept ID: C0037317
- Finding: Finding
Abnormality of the nervous system
- Broad-based gait
- Abnormality of the respiratory system
- Atelectasis
Atelectasis
- MedGen UID: 13946
- Concept ID: C0004144
- Finding: Pathologic Function
Abnormality of the respiratory system
- Cough
Cough
- MedGen UID: 41325
- Concept ID: C0010200
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Crackles
Crackles
- MedGen UID: 11118
- Concept ID: C0034642
- Finding: Finding
Abnormality of the respiratory system
- Cystic pattern on pulmonary HRCT
Cystic pattern on pulmonary HRCT
- MedGen UID: 1374982
- Concept ID: C4476752
- Finding: Finding
Abnormality of the respiratory system
- Elevated bronchoalveolar lavage fluid lymphocyte proportion
Elevated bronchoalveolar lavage fluid lymphocyte proportion
- MedGen UID: 1713125
- Concept ID: C5397968
- Finding: Finding
Abnormality of the respiratory system
- Elevated bronchoalveolar lavage fluid neutrophil proportion
Elevated bronchoalveolar lavage fluid neutrophil proportion
- MedGen UID: 1710230
- Concept ID: C5397969
- Finding: Finding
Abnormality of the respiratory system
- Ground-glass opacification
Ground-glass opacification
- MedGen UID: 1779663
- Concept ID: C5539411
- Finding: Finding
Abnormality of the respiratory system
- Hypoxemia
Hypoxemia
- MedGen UID: 152145
- Concept ID: C0700292
- Finding: Finding
Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Oxygen desaturation on exertion
Oxygen desaturation on exertion
- MedGen UID: 894519
- Concept ID: C4280731
- Finding: Finding
Abnormality of the respiratory system
- Parenchymal consolidation
Parenchymal consolidation
- MedGen UID: 1687071
- Concept ID: C5139174
- Finding: Finding
Abnormality of the respiratory system
- Pulmonary fibrosis
Pulmonary fibrosis
- MedGen UID: 11028
- Concept ID: C0034069
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Pulmonary infiltrates
Pulmonary infiltrates
- MedGen UID: 116009
- Concept ID: C0235896
- Finding: Finding
Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Tachypnea
Tachypnea
- MedGen UID: 66669
- Concept ID: C0231835
- Finding: Finding
Abnormality of the respiratory system
- Wheezing
Wheezing
- MedGen UID: 21917
- Concept ID: C0043144
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Atelectasis
- Ear malformation
- Cholesteatoma
Cholesteatoma
- MedGen UID: 3043
- Concept ID: C0008373
- Finding: Disease or Syndrome
Ear malformation
- Cholesteatoma
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