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 5^th finger clinodactyly and brachydactyly) with hypoplastic thumbs. Shortening of the 2^nd and 5^th middle phalanx of the fingers is especially common. True short stature is uncommon but 60% are below the 10^th 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.

Genetics

This is an autosomal dominant disorder secondary to mutations in the MYCN [1] gene (2p24.3).

MYCN [1] is up regulated in some patients with retinoblastoma [2] (180200 [3]).

Feingold syndrome 2 (614326 [4]) is caused by hemizygous deletions of the MIR17HG [5] gene but no ocular signs have been reported.

Treatment

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.

References

Article Title:

Genotype-phenotype correlations in MYCN-related Feingold syndrome [6]

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:

18470948

Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay [7]

Feingold M, Hall BD, Lacassie Y, Martinez-Frias ML. Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. Am J Med Genet. 1997 Mar 31;69(3):245-9.

PubMed ID:

9096752