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.



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Narrow down the case reports



Total: 17 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(75.3%)		 21416592
 How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Megarbane A.
Am J Med Genet A. 2011;155A(4):880-4.
Short philtrum Upslanted palpebral fissure Short 5th metacarpal
Brachydactyly Congenital Abnormality Congenital Foot Deformity Congenital Hand Deformities Duodenal Obstruction Esophageal Atresia Facies Growth Disorders Heterozygote Homeodomain Proteins Homo sapiens Intellectual Disability Limb Deformities, Congenital Male Microcephaly Missense Mutation Nails, Malformed Phenotype Rubinstein-Taybi Syndrome Syndactyly Syndrome Tracheoesophageal Fistula
2
(64.6%)		 22842076
 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.
Micrognathia Short palpebral fissure Finger clinodactyly
DDX1 LRATD1 MYCN MYCNOS NBAS TMED2
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 Females Genetic Loci Haploinsufficiency Hearing Loss, Bilateral Homo sapiens Intellectual Disability Limb Deformities, Congenital Magnetic Resonance Imaging Microcephaly N-Myc Proto-Oncogene Protein Nuclear Proteins Oncogene Proteins Tracheoesophageal Fistula
3
(60.6%)		 9096751
 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.
Microcephaly Brachydactyly Short toe
Adult Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Infant Infant, Newborn Intelligence Male Syndrome
4
(58.8%)		 10911531
 [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.
Microcephaly Brachydactyly Short palpebral fissure
Duodenal Diseases Fingers Homo sapiens Infant Male Microcephaly Syndrome Toes
4
(58.8%)		 10817649
 Imperforate anus in Feingold syndrome.
Buttiker V, Wojtulewicz J, Wilson M.
Am J Med Genet. 2000;92(3):166-9.
Microcephaly Brachydactyly Short palpebral fissure
Anus, Imperforate Duodenal Diseases Esophageal Atresia Females Fingers Homo sapiens Infant, Newborn Male Microcephaly Rectal Fistula Syndactyly Syndrome Toes
6
(54.5%)		 19852433
 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.
Microcephaly Syndactyly Short palpebral fissure
MYCN
Chromosome Aberrations Craniofacial Abnormalities Duodenum Esophageal Atresia Fingers Genes, Dominant Homo sapiens Infant Intestinal Atresia Male Microcephaly Missense Mutation N-Myc Proto-Oncogene Protein Nuclear Proteins Oncogene Proteins Phenotype Syndrome West Syndrome
6
(54.5%)		 9375923
 Feingold syndrome: report of a new family and review.
Courtens W, Levi S, Verbelen F, Verloes A, Vamos E.
Am J Med Genet. 1997;73(1):55-60.
Microcephaly Syndactyly Short palpebral fissure
Adult Congenital Foot Deformity Congenital Hand Deformities Duodenal Diseases Esophageal Atresia Face Females Homo sapiens Infant, Newborn Male Syndrome
8
(53.2%)		 17848225
 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.
Microcephaly Finger clinodactyly
rs886041801
Esophageal Atresia Homo sapiens Infant Male Mutation N-Myc Proto-Oncogene Protein Nuclear Proteins Oncogene Proteins Syndrome Tracheoesophageal Fistula
9
(53.1%)		 26360630
 Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Microcephaly Brachydactyly
MIR17HG
Aortic Valve Stenosis Brachydactyly Chromosome Deletion Chromosomes, Human, Pair 13 Dwarfism Fingers Homo sapiens Male MicroRNAs RNA, Long Untranslated RNA, Untranslated Toes
10
(52.4%)		 10905665
 Vertebral anomalies in a new family with ODED syndrome.
Piersall LD, Dowton SB, McAlister WH, Waggoner DJ.
Clin Genet. 2000;57(6):444-8.
Microcephaly Abnormality of the hand
Bone and Bones Congenital Foot Deformity Congenital Hand Deformities Duodenal Diseases Females Genes, Dominant Homo sapiens Infant Infant, Newborn Male Microcephaly Syndrome Tracheoesophageal Fistula
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0009468 Deviation of the 2nd finger Very frequent (99-80%)
HP:0012745 Short palpebral fissure Very frequent (99-80%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001822 Hallux valgus Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0008572 External ear malformation Frequent (79-30%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001734 Annular pancreas Occasional (29-5%)
HP:0001743 Abnormality of the spleen Occasional (29-5%)
HP:0002032 Esophageal atresia Occasional (29-5%)
HP:0002247 Duodenal atresia Occasional (29-5%)
HP:0003312 Abnormal form of the vertebral bodies Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 12

HPO ID Term # of case reports
HP:0000252 Microcephaly 11
HP:0012745 Short palpebral fissure 3
HP:0001156 Brachydactyly 2
HP:0002589 Gastrointestinal atresia 2
HP:0004322 Short stature 2
HP:0000365 Hearing impairment 1
HP:0001155 Abnormality of the hand 1
HP:0001159 Syndactyly 1
HP:0002575 Tracheoesophageal fistula 1
HP:0011100 Intestinal atresia 1
HP:0012715 Profound hearing impairment 1
HP:0030084 Clinodactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID