Feingold syndrome

Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
30204967
 MIXED_SAMPLE Infant
GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION.
Atik T, Guvenc MS, Onay H, Ozkinay F, Cogulu O.
Genet Couns. 2016;27(3):381-384.
Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation.
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Additionally, our patient does not have microcephaly and, to our knowledge, is the first reported pediatric patient with Feingold syndrome-2 without this feature.
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.
23824919
 MALE
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
Isidor B, Le Meur G, Conti C, Caldagues E, Lainey E, Launay E, Leclair MD, Le Francois T, Pichon O, Boisseau P, Migraine A, Keren B, Le Caignec C, Crow YJ, David A.
Am J Med Genet A. 2013;161A(8):1829-32.
The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome.
22842076
 FEMALE
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.
Chen CP, Lin SP, Chern SR, Wu PS, Chang SD, Ng SH, Liu YP, Su JW, Wang W.
Eur J Med Genet. 2012;55(11):666-9.
A de novo 4.4-Mb microdeletion in 2p24.3 8594 p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.
19852433
 MALE Infant
A Feingold syndrome case with previously undescribed features and a new mutation.
Kocak H, Ozaydin E, Kose G, Marcelis CL, Kamsteeg EJ, Ceylaner S.
Genet Couns. 2009;20(3):261-7.
Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia.
17848225
 MALE Infant
Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula.
Layman-Pleet L, Jackson CC, Chou S, Boycott KM.
J Pediatr Surg. 2007;42(9):E1-3.
Feingold syndrome is an important genetic cause of syndromic EA-TEF to consider in patients with associated microcephaly and digital anomalies.
10817649
 MIXED_SAMPLE Infant, Newborn
Imperforate anus in Feingold syndrome.
Buttiker V, Wojtulewicz J, Wilson M.
Am J Med Genet. 2000;92(3):166-9.
A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes.
10905665
 MIXED_SAMPLE Infant, Newborn
Vertebral anomalies in a new family with ODED syndrome.
Piersall LD, Dowton SB, McAlister WH, Waggoner DJ.
Clin Genet. 2000;57(6):444-8.
We report a new family with oculodigitoesophagoduodenal syndrome (ODED syndrome), which associates microcephaly, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fistula and duodenal atresia.
10911531
 MALE Infant
[Feingold syndrome].
Alessandri JL, Graber D, Tiran-Rajaofera I, Montbrun A, Pilorget H, Samperiz S, Attali T, de Napoli-Cocci S.
Arch Pediatr. 2000;7(6):637-40.
Feingold syndrome is a combination of hand and foot anomalies, microcephaly, tracheo-esophageal fistula, esophageal/duodenal atresia, short palpebral fissures and developmental delay.
9096751
 MIXED_SAMPLE Infant, Newborn
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
Kawame H, Pagon RA, Hudgins L.
Am J Med Genet. 1997;69(3):240-4.
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
9268091
 MIXED_SAMPLE Infant, Newborn
MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L.
Am J Med Genet. 1997;71(3):251-7.
MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.