Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Novak syndrome
Number of Symptoms 13
OrphanetNr: 2005
OMIM Id:
ICD-10:
UMLs: C1859083
MeSH: C537851
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare surgical thoracic disease
Respiratory malformation
 -Rare respiratory disease
Tracheal anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
2
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
3
 (HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
4
 (HPO:0002242) Abnormality of the intestine Frequent [Orphanet] 42 / 7739
5
 (HPO:0001743) Abnormality of the spleen Frequent [Orphanet] 37 / 7739
6
 (HPO:0100016) Abnormality of mesentery morphology Frequent [Orphanet] 7 / 7739
7
 (HPO:0002575) Tracheoesophageal fistula Frequent [Orphanet] 54 / 7739
8
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
9
 (HPO:0002777) Tracheal stenosis Frequent [Orphanet] 35 / 7739
10
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
11
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
12
 (HPO:0001601) Laryngomalacia Frequent [Orphanet] 61 / 7739
13
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: