How is Feingold syndrome type 1 inherited?

Feingold syndrome type 1 follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Feingold syndrome type 1?

Feingold syndrome type 1 is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Feingold syndrome type 1 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Feingold syndrome type 1?

Information about treatment is currently limited for this condition.

What complications can arise from Feingold syndrome type 1?

Feingold syndrome type 1 can lead to various complications due to the physical differences it causes. For example, the digital anomalies may affect hand and foot function, which can impact daily activities. Additionally, the small head size and short stature may lead to other health concerns that need monitoring.

How does Feingold syndrome type 1 affect daily life?

Living with Feingold syndrome type 1 can present unique challenges. Children may need extra support in school due to their short stature and potential learning differences. Families may also need to adapt their home environment to ensure safety and accessibility for their child's specific needs.

What is the life expectancy for someone with Feingold syndrome type 1?

Currently, there is limited information about the life expectancy of individuals with Feingold syndrome type 1. Because it is a rare condition, more research is needed to understand its long-term effects on health and longevity. Regular medical check-ups can help manage any complications that may arise.

Are there specialists that should be involved in the care of someone with Feingold syndrome type 1?

Yes, individuals with Feingold syndrome type 1 may benefit from seeing various specialists. These can include geneticists for understanding the genetic aspects, orthopedic specialists for any digital anomalies, and developmental pediatricians for monitoring growth and development. A team approach can help address the unique needs of the individual.

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Feingold syndrome type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Short middle phalanx of finger; and common findings: Mild intellectual disability, Short palpebral fissure, Esophageal atresia, and 4-5 toe syndactyly and others. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	High palate, Microcephaly, Everted lower lip vermilion
Brain and nerves	4	Mild intellectual disability, Depressed nasal tip, Specific learning disability
Arms and legs	4	4-5 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger
Digestive system	3	Accessory spleen, Esophageal atresia, Gastrointestinal atresia
Heart and blood vessels	2	Interrupted aortic arch, Ventricular septal defect
Ears	1	Hearing loss (hearing impairment)
Pregnancy and birth	1	Decreased fetal movement

Age of onset: at birth.

GeneReviews

Clinical Guidance

Feingold syndrome 1 (FS1) as described by and is characterized by digital anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias, and learning disability. To date, 69 families with 116 affected individuals having three or more of the core features of FS1 (brachymesophalangy, toe syndactyly, microcephaly, short palpebral fissures, and intestinal atresia) have been reported . Features are summarized in . Table 2. Features in Feingold Syndrome 1 (FS1) Feature | % of Persons w/Feature Digital anomalies

Brachymesophalangy	100%
Facial dysmorphism	Short palpebral fissures
Atresia	Esophageal
Other	Renal abnormalities

Source: GeneReviews — "Feingold Syndrome 1"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Feingold syndrome 1 (FS1) should be suspected in probands with the following clinical findings .

Digital anomalies (brachymesophalangy, thumb hypoplasia, toe syndactyly)
Microcephaly (occipito-frontal circumference 10th centile)
Short palpebral fissures
Gastrointestinal atresias, especially esophageal and duodenal, diagnosed pre- or postnatally by imaging studies (usually ultrasound examination, possibly MRI)

Establishing the Diagnosis

The diagnosis of FS1 is established in a proband with suggestive clinical findings and a heterozygous pathogenic (or likely pathogenic) variant in MYCN identified by molecular genetic testing . Note: (1) Large contiguous-gene deletions encompassing MYCN and other genes have been reported in individuals with features of FS1 but more complex ph...

Source: GeneReviews — "Feingold Syndrome 1"

GeneReviews

Differential Diagnosis

Table 3. Other Genes of Interest in the Differential Diagnosis of Feingold Syndrome 1 (FS1)

Gene(s)	Disorder	MOI	Clinical Features of Differential Diagnosis Disorder
CHARGE syndrome	AD	Esophageal atresia; Heart defects; Renal abnormalities	Coloboma; Genital abnormalities
Ear anomalies MIR17HG1	Feingold syndrome 2(OMIM 614326)	AD

Genetic testing for MYCN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Feingold syndrome type 1 has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Feingold syndrome type 1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Feingold syndrome 1 (FS1), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Feingold Syndrome 1 (FS1)

System/Concern	Evaluation	Comment
Hands/Feet	Assess for digital anomalies.	Hand surgeon; Occupational therapy to assess hand function/ need for therapy; Foot specialist to assess for functional needs
Gastrointestinal tract	Assess for gastrointestinal atresia (incl esophageal, duodenal, jejunal, anal).	Gastroenterologist/ GI surgeon
Development	Developmental assessment	Incl eval of motor, speech-language, general cognitive, vocational skills
Renal abnormalities	Renal ultrasound eval	Assess for renal anomalies.
Cardiac abnormalities	Assess for congenital heart defects.	Pediatric cardiologist
Hearing loss	Audiologic eval1	Conductive sensorineural
Miscellaneous	Consultation w/clinical geneticist /or genetic counselor	1. See Hereditary Hearing Loss and Deafness Overview for details about audiologic evaluations.

Source: GeneReviews — "Feingold Syndrome 1"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Feingold Syndrome 1"

Clinical Trials

View trials for Feingold syndrome type 1

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Feingold Syndrome 1

System/Concern	Evaluation	Frequency
Hands/Feet	Hand function / need for OT	Per OT
GI tract atresia	As specified by GI consultants	Per GI consultants Development/
Education	Monitor developmental progress educational needs.	Routinely, per developmental pediatrician /or school
Renal	As specified by renal consultants	Per renal consultants
Cardiac	As specified by cardiac consultants	Per cardiologist
Hearing	Audiologic reexamination to determine type extent of hearing loss success w/hearing habilitation	Per treating audiologist GI = gastrointestinal; OT = occupational therapist/therapy

Source: GeneReviews — "Feingold Syndrome 1"

Phenotype severity distribution: 1 always present feature, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Feingold syndrome type 1.

55 publications have been identified in PubMed for Feingold syndrome type 1. Research spans Basic Science / Preclinical (31%), Clinical Trial Publication (25%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	17	31%
Clinical study results	14	25%
Disease patterns and progression	8	15%
Patient case studies	7	13%
Research summaries	4	7%
New treatment approaches	3	5%
Testing and diagnosis research	2	4%

Recent Publications

Choi SB (2026). [PMID: 41992837](https://pubmed.ncbi.nlm.nih.gov/41992837/). *Top Stroke Rehabil*. [Epidemiology / Natural History]
Šáhó R (2026). [PMID: 41928800](https://pubmed.ncbi.nlm.nih.gov/41928800/). *Res Sq*. [Case Report / Case Series]
Sacchetto L (2026). [PMID: 41403717](https://pubmed.ncbi.nlm.nih.gov/41403717/). *Lancet regional health. Americas*. [Epidemiology / Natural History]
Carli L (2026). [PMID: 41176342](https://pubmed.ncbi.nlm.nih.gov/41176342/). *The Journal of rheumatology*. [Clinical Trial Publication]
Javier Mérida De la Torre F (2026). [PMID: 42195009](https://pubmed.ncbi.nlm.nih.gov/42195009/). *Genes (Basel)*. [Basic Science / Preclinical]
Weijers JAM (2026). [PMID: 42066686](https://pubmed.ncbi.nlm.nih.gov/42066686/). *ESMO Open*. [Basic Science / Preclinical]
Tzeravini E (2026). [PMID: 41575482](https://pubmed.ncbi.nlm.nih.gov/41575482/). *Current obesity reports*. [Diagnostic / Biomarker]
Yu M (2026). [PMID: 41407150](https://pubmed.ncbi.nlm.nih.gov/41407150/). *Journal of dentistry*. [Basic Science / Preclinical]
Dehghani L (2026). [PMID: 41218735](https://pubmed.ncbi.nlm.nih.gov/41218735/). *Diabetes & metabolism*. [Clinical Trial Publication]
Retuerto-Guerrero M (2026). [PMID: 41400930](https://pubmed.ncbi.nlm.nih.gov/41400930/). *Rheumatology (Oxford, England)*. [Review / Meta-Analysis]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:164280

Orphanet

European rare disease database

Orphanet:391641

GARD

Genetic and Rare Diseases Info Center

GARD:17624

Questions for Your Care Team

→Should I pursue genetic testing for MYCN, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Feingold syndrome type 1

Feingold syndrome type 1 (FS1) is a rare inheritable condition that affects the development of multiple parts of the body. It is known for features such as a small head (microcephaly), short stature, and various digital anomalies. These digital differences can involve the fingers and toes, leading to structural variations that can be observed with physical examination. The syndrome is part of a group of genetic disorders where changes in a single gene can lead to multiple physical differences. Feingold syndrome type 1 is linked to changes in the MYCN gene. Overall, it is recognized as a malformation syndrome, meaning that it causes differences in the formation of body parts. Families and caregivers may notice these signs early in life and seek evaluation for a clearer diagnosis.

People with Feingold syndrome type 1 often have a small head size (microcephaly) and short stature. They also present with numerous digital anomalies, which means that there may be differences in the fingers and toes. Information about other possible symptoms is limited from the available sources.

Feingold syndrome type 1 is caused by changes in the MYCN gene. This genetic alteration is inherited, meaning that it can be passed down from parent to child. The alteration in this gene disrupts normal development, leading to the physical differences seen in the condition. Associated genes include MYCN.

Kisho

Feingold syndrome type 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Feingold syndrome type 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Feingold syndrome type 1?

What are the symptoms of Feingold syndrome type 1?

What causes Feingold syndrome type 1?

How is Feingold syndrome type 1 inherited?

How rare is Feingold syndrome type 1?

How is Feingold syndrome type 1 diagnosed?

Are there treatments for Feingold syndrome type 1?

What complications can arise from Feingold syndrome type 1?

How does Feingold syndrome type 1 affect daily life?

What is the life expectancy for someone with Feingold syndrome type 1?

Are there specialists that should be involved in the care of someone with Feingold syndrome type 1?