Feingold syndrome

Classification	OMIM: 164280; DiseasesDB: 33706;
External resources	GeneReviews: Feingold Syndrome 1;

Feingold syndrome
Feingold syndrome
Other names: Oculodigitoesophagoduodenal syndrome
	Feingold Syndrome is inherited in an autosomal dominant fashion.

Feingold syndrome (also called oculodigitoesophagoduodenal 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.^[1]

Signs and symptoms

Syndactyly of 2nd and 3rd or 4th and 5th toe

Feingold syndrome is marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias. Cognition is affected, and ranges from below-average IQ to mild intellectual disability.^[2]

Genetics

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). This syndrome has also been linked to microdeletions in the MIR17HG locus which encodes a micro RNA cluster known as miR-17/92.^[3]

Diagnosis

The diagnosis is based on the following clinical findings:^{[citation needed]}

microcephaly
clinodactyly and shortness of index and little fingers
syndactyly of 2nd & 3rd and 4th & 5th toe
short palpebral fissures
esophageal and/or duodenal atresia

Treatment

There is no known treatment for the disorder, but surgery for malformations, special education, and treatment of hearing loss are important.^[4]

References

↑ Tészás A, Meijer R, Scheffer H, et al. (October 2006). "Expanding the clinical spectrum of MYCN-related Feingold syndrome". Am. J. Med. Genet. A. 140 (20): 2254–6. doi:10.1002/ajmg.a.31407. PMID 16906565.
↑ Celli J, van Bokhoven H, Brunner HG (November 2003). "Feingold syndrome: clinical review and genetic mapping". Am. J. Med. Genet. A. 122A (4): 294–300. doi:10.1002/ajmg.a.20471. PMID 14518066.
↑ Marcelis, Carlo L. M.; Hol, Frans A.; Graham, Gail E.; Rieu, Paul N. M. A.; Kellermayer, Richard; Meijer, Rowdy P. P.; Lugtenberg, Dorien; Scheffer, Hans; Bokhoven, Hans van (2008). "Genotype–phenotype correlations in MYCN-related Feingold syndrome". Human Mutation. 29 (9): 1125–1132. doi:10.1002/humu.20750. ISSN 1098-1004.
↑ "Feingold Syndrome 1 | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Archived from the original on 2019-10-07. Retrieved 2019-10-07.

External links

GeneReview/NIH/UW entry on Feingold syndrome Archived 2023-01-28 at the Wayback Machine

[1] Tészás A, Meijer R, Scheffer H, et al. (October 2006). "Expanding the clinical spectrum of MYCN-related Feingold syndrome". Am. J. Med. Genet. A. 140 (20): 2254–6. doi:10.1002/ajmg.a.31407. PMID 16906565.

[2] Celli J, van Bokhoven H, Brunner HG (November 2003). "Feingold syndrome: clinical review and genetic mapping". Am. J. Med. Genet. A. 122A (4): 294–300. doi:10.1002/ajmg.a.20471. PMID 14518066.

[3] Marcelis, Carlo L. M.; Hol, Frans A.; Graham, Gail E.; Rieu, Paul N. M. A.; Kellermayer, Richard; Meijer, Rowdy P. P.; Lugtenberg, Dorien; Scheffer, Hans; Bokhoven, Hans van (2008). "Genotype–phenotype correlations in MYCN-related Feingold syndrome". Human Mutation. 29 (9): 1125–1132. doi:10.1002/humu.20750. ISSN 1098-1004.

[4] "Feingold Syndrome 1 | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Archived from the original on 2019-10-07. Retrieved 2019-10-07.

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v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

Feingold syndrome

Contents

Signs and symptoms

Genetics

Diagnosis

Treatment

References

External links

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Feingold syndrome
Other names: Oculodigitoesophagoduodenal syndrome

Feingold Syndrome is inherited in an autosomal dominant fashion.

Classification	OMIM: 164280 DiseasesDB: 33706
External resources	GeneReviews: Feingold Syndrome 1

Feingold syndrome

Signs and symptoms

Genetics

Diagnosis

Treatment

References

External links

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