Feingold syndrome

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Feingold syndrome
Classification and external resources
OMIM	164280
DiseasesDB	33706
GeneReviews	Feingold Syndrome 1

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]

Characteristics

Feingold syndrome is marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and sometimes learning disability or mental retardation.^[2]

Genetics and cause

Feingold Syndrome is inherited in an autosomal dominant fashion.

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).

Diagnosis and treatment

The diagnosis is based on the following clinical findings:

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

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.

External links

GeneReview/NIH/UW entry on Feingold syndrome

Congenital abnormality
multiple abnormalities (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome/Pfeiffer syndrome Saethre–Chotzen syndrome Carpenter syndrome Sakati–Nyhan–Tisdale syndrome

other:	Möbius syndrome Goldenhar syndrome Cyclopia Baller–Gerold syndrome

Short stature

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

Laurence–Moon–Bardet–Biedl

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

v t e Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains	1.2: Feingold syndrome · Saethre–Chotzen syndrome 1.3: Tietz syndrome

(2) Zinc finger DNA-binding domains	2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis 2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome 2.3: Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2 2.5: Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains	3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat–Wilson syndrome) 3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3) 3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX) 3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)

(4) β-Scaffold factors with minor groove contacts	4.2: Hyperimmunoglobulin E syndrome 4.3: Holt–Oram syndrome · Li–Fraumeni syndrome · Ulnar–mammary syndrome 4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome) 4.11: Cleidocranial dysostosis

(0) Other transcription factors	0.6: Kabuki syndrome

Ungrouped	TCF4 (Pitt–Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)

Transcription coregulators	Coactivator: CREBBP (Rubinstein–Taybi syndrome) Corepressor: HR (Atrichia with papular lesions)

See also transcription factors B structural perx skel cili mito nucl sclr DNA/RNA/protein synthesis drep trfc tscr tltn membrane icha slcr atpa abct othr transduction iter csrc itra trfk

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