Feingold syndrome
Encyclopedia
Feingold syndrome is a rare autosomal dominant hereditary disorder. It is named after Murray Feingold
, an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide.
, limb malformations, esophageal
and duodenal
atresia
s, and sometimes learning disability
or mental retardation
.
Feingold syndrome is caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene
(MYCN) which is located on the short arm of chromosome
2 (2p24.1).
Murray Feingold
Murray Feingold is a physician-in-chief of the Feingold Center for Children. He was previously chief of the division of ambulatory services and chief of genetics and birth defects at Boston Floating Hospital for Children and director of genetics at Franciscan Children's Hospital and Rehabilitation...
, an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide.
Characteristics
Feingold syndrome is marked by various combinations of microcephalyMicrocephaly
Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
, limb malformations, esophageal
Esophagus
The esophagus is an organ in vertebrates which consists of a muscular tube through which food passes from the pharynx to the stomach. During swallowing, food passes from the mouth through the pharynx into the esophagus and travels via peristalsis to the stomach...
and duodenal
Duodenum
The duodenum is the first section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms anterior intestine or proximal intestine may be used instead of duodenum...
atresia
Atresia
Atresia is a condition in which a body orifice or passage in the body is abnormally closed or absent.Examples of atresia include:* Imperforate anus - malformation of the opening between the rectum and anus....
s, and sometimes learning disability
Learning disability
Learning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...
or mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
.
Genetics and cause
N-Myc
V-myc myelocytomatosis viral related oncogene, neuroblastoma derived , also known as MYCN, is a protein which in humans is encoded by the MYCN gene.- Function :...
(MYCN) which is located on the short arm of chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
2 (2p24.1).
Diagnosis and treatment
The diagnosis is based on the following clinical findings:- microcephaly
- clinodactylyClinodactyly-References:...
and shortness of index and little fingers - syndactylySyndactylySyndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
of 2nd & 3rd and 4th & 5th toe - short palpebral fissures
- esophageal and/or duodenal atresia