Rare Nephrology News

Disease Profile

Feingold syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Oculodigitoesophagoduodenal syndrome; Brunner-Winter syndrome; ODED syndrome;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1305

Definition
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.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Deviation of the 2nd finger
Displaced index finger
0009468
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Short palpebral fissure
Short opening between the eyelids
0012745
30%-79% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
External ear malformation
0008572
Hallux valgus
Bunion
0001822
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Short stature
Decreased body height
Small stature

[ more ]

0004322
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Abnormality of the spleen
0001743
Annular pancreas
0001734
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Esophageal atresia
Birth defect in which part of esophagus did not develop
0002032
Oral cleft
Cleft of the mouth
0000202
Patent ductus arteriosus
0001643
Sensorineural hearing impairment
0000407
1%-4% of people have these symptoms
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
4-5 toe syndactyly
Webbed 4th-5th toes
0004692
Percent of people who have these symptoms is not available through HPO
Accessory spleen
0001747
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Absent/small middle index finger bone
Absent/underdeveloped middle index finger bone

[ more ]

0009568
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Absent/small middle bone of pinky finger
Absent/underdeveloped middle bone of little finger
Absent/underdeveloped middle bone of pinkie finger
Absent/underdeveloped middle bone of pinky finger

[ more ]

0009161
Asplenia
Absent spleen
0001746
Autosomal dominant inheritance
0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Depressed nasal tip
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed

[ more ]

0000437
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Narrow palpebral fissure
Small opening between the eyelids
0045025
Polyhydramnios
High levels of amniotic fluid
0001561
Polysplenia
Multiple small spleens
0001748
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent occiput
Prominent back of the skull
Prominent posterior skull

[ more ]

0000269
Short toe
Short toes
Stubby toes

[ more ]

0001831
Small anterior fontanelle
0000237
Specific learning disability
0001328
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Tracheoesophageal fistula
0002575
Triangular face
Face with broad temples and narrow chin
Triangular facial shape

[ more ]

0000325
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Vocal cord paralysis
Inability to move vocal cords
0001605
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Feingold syndrome. Click on the link to view a sample search on this topic.