Feingold Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/feingold-syndrome

Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.

genetic conditions

1. Introduction

Individuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes.

Additional common features of both types of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disabilities. Less often, affected individuals have hearing loss, short stature, or kidney or heart abnormalities.

People with Feingold syndrome type 1 are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Individuals with type 2 do not have gastrointestinal atresias.

2. Frequency

Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown. Type 1 is more common than type 2.

3. Causes

Mutations in the MYCN gene cause Feingold syndrome type 1, and mutations in chromosome 13 that remove (delete) a region of the chromosome that includes the MIR17HG gene cause type 2. Both genes are involved in growth and development, particularly before birth.

The MYCN gene provides instructions for making a protein that regulates the activity (expression) of other genes. The protein attaches (binds) to specific regions of DNA and controls the first step of protein production (transcription). Studies suggest that the MYCN protein is necessary for normal development of the limbs, heart, kidneys, lungs, nervous system, and digestive system.

The MIR17HG gene provides instructions for making a set of microRNAs (miRNAs) known as the miR-17~92 cluster. MiRNAs are short pieces of RNA, a chemical cousin of DNA. These molecules control gene expression by blocking protein production. The miRNAs in the miR-17~92 cluster are involved in the development of many tissues and organs in the body.

Mutations affecting the MYCN or MIR17HG gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional protein or miRNAs, respectively. As a result, only half the normal amount of the protein or miRNAs is available to control the activity of specific genes during development. It remains unclear how a reduced amount of the MYCN protein or miR-17~92 cluster miRNAs cause the specific features of Feingold syndrome.

4. Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

5. Other Names for This Condition

Brunner-Winter syndrome
microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome
microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome
oculo-digito-esophagoduodental (ODED) syndrome

References

Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review andgenetic mapping. Am J Med Genet A. 2003 Nov 1;122A(4):294-300. Review.
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A,Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA,Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet.2011 Sep 4;43(10):1026-30. doi: 10.1038/ng.915.
Grote LE, Repnikova EA, Amudhavalli SM. Expanding the phenotype of feingoldsyndrome-2. Am J Med Genet A. 2015 Dec;167A(12):3219-25. doi:10.1002/ajmg.a.37368.
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-phenotypecorrelations in MYCN-related Feingold syndrome. Hum Mutat. 2008Sep;29(9):1125-32. doi: 10.1002/humu.20750.
Marcelis CLM, de Brouwer APM. Feingold Syndrome 1. 2009 Jun 30 [updated 2019Apr 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK7050/
Tészás A, Meijer R, Scheffer H, Gyuris P, Kosztolányi G, van Bokhoven H,Kellermayer R. Expanding the clinical spectrum of MYCN-related Feingold syndrome.Am J Med Genet A. 2006 Oct 15;140(20):2254-6.
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van BeusekomE, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency isassociated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7.

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Nicole Yin

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Table of Contents

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1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1. The Genes and Chromosome Associated with Feingold Syndrome

4. Inheritance

5. Other Names for This Condition

References