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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.
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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.
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 | ||
|
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 |
|
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 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Toe |
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 |
| 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
- Genetics Home Reference (GHR) contains information on Feingold syndrome. This website is maintained by the National Library of Medicine.
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.