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)
11
(48.8%)		 23824919
 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.
Microcephaly Preaxial polydactyly
CTC1 MIR17HG MYCN
Brain Diseases Calcinosis Child, Preschool Duodenal Obstruction Dwarfism Exudates and Transudates Genital Diseases, Male Homo sapiens Intestinal Atresia Male Microcephaly Phenotype Polydactyly Syndrome X-Ray Computed Tomography
11
(48.8%)		 9268091
 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.
Microcephaly Syndactyly
Adult Child Child, Preschool Duodenum Esophageal Atresia Females Fingers Homo sapiens Infant Infant, Newborn Learning Disabilities Male Microcephaly Phenotype Syndrome Toes
13
(39.0%)		 30204967
 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.
Microcephaly
MYCN
Adult Chromosome Aberrations DNA Mutational Analysis Females Genes, Dominant Genetic Carrier Screening Genetic Counseling Genotype Homo sapiens Infant Intellectual Disability Limb Deformities, Congenital Male Microcephaly N-Myc Proto-Oncogene Protein Phenotype Sequence Analysis, DNA Tracheoesophageal Fistula
13
(39.0%)		 25391829
 A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
Ganjavi H, Siu VM, Speevak M, MacDonald PA.
BMJ Case Rep. 2014;2014:.
Microcephaly
MIR17HG MYCN
Antipsychotic Agents Anxiety Disorders Females Follow-Up Studies Health Risk Assessment Homo sapiens Intellectual Disability Limb Deformities, Congenital Microcephaly Mood Disorders Obsessive-Compulsive Disorder Rare Diseases Severity of Illness Index Tracheoesophageal Fistula
13
(39.0%)		 15185158
 Familial syndromic duodenal atresia: Feingold syndrome.
Holder-Espinasse M, Ahmad Z, Hamill J, Pahari A, Misra D, Drake D, Winter RM, Wilson LC.
Eur J Pediatr Surg. 2004;14(2):112-6.
Microcephaly
Duodenal Obstruction Homo sapiens Intestinal Atresia Intestinal Fistula Male Multicystic Dysplastic Kidney Syndrome
16
(4.0%)		 15930908
 Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature.
Shaw-Smith C, Willatt L, Thalange N.
Clin Dysmorphol. 2005;14(3):155-8.
Short stature
Child Congenital Hand Deformities Duodenal Obstruction Esophageal Atresia Females Fingers Growth Disorders Homo sapiens Male Microcephaly Syndrome
16
(4.0%)		 10664710
 Feingold syndrome--a cause of profound deafness.
Dodds A, Ramsden R, Kingston H.
J Laryngol Otol. 1999;113(10):919-21.
Profound hearing impairment
Deafness Females Homo sapiens Infant, Newborn Microcephaly Pancreas Patient Selection Syndactyly Syndrome X-Ray Computed Tomography
        

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