tracheoesophageal fistula

Feingold Syndrome 1

Clinical Characteristics
Ocular Features: 

Short, narrow palpebral fissures have been reported (73%).  The fissures may be up slanting and epicanthal folds have been noted.   

Systemic Features: 

The face can appear asymmetrical and triangular and the head is small in 89% of individuals.  Micrognathia is usually present and the lips appear full.  The nasal bridge is broad and the nostrils are anteverted.  The ears are often low-set and rotated posteriorly.  Syndactyly of the toes is common (97%) and the fingers are often anomalous (particularly 5th finger clinodactyly and brachydactyly) with hypoplastic thumbs.  Shortening of the 2nd and 5th middle phalanx of the fingers is especially common.  True short stature is uncommon but 60% are below the 10th centile.  Rare individuals have a sensorineural hearing loss.

Tracheoesophageal fistulas are often present, together with atresia of the duodenum and sometimes the esophagus as well.  Cardiac, renal, and vertebral malformations are seen in a minority of patients.

Intelligence may be normal but more often is below average and learning difficulties are often present.


This is an autosomal dominant disorder secondary to mutations in the MYCN gene (2p24.3).

MYCN is up regulated in some patients with retinoblastoma (180200).

Feingold syndrome 2 (614326) is caused by hemizygous deletions of the MIR17HG gene but no ocular signs have been reported.

Autosomal dominant
Treatment Options: 

There is no known treatment for the syndrome but surgery can be important for some of the external and internal malformations. Special education and treatment of hearing loss are important.

Article Title: 

Genotype-phenotype correlations in MYCN-related Feingold syndrome

Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat. 2008 Sep;29(9):1125-32.

PubMed ID: 
Subscribe to RSS - tracheoesophageal fistula