Feingold syndrome type 1
Findings
No curated finding names Feingold syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.
Definition from the Mondo Disease Ontology (MONDO:0008115), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Short middle phalanx of fingerHPOHP:0005819
- 77 of 77 reported patients
- Very frequent (80% to 99% of cases)
- Gastrointestinal atresiaHPOHP:0002589
- 42 of 77 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Toe syndactylyHPOHP:0001770
- Very frequent (80% to 99% of cases)
- 4-5 toe syndactylyHPOHP:0004692
- 58 of 77 reported patients
- Frequent (30% to 79% of cases)
- 2-3 toe syndactylyHPOHP:0004691
Show the remaining 26
- Short middle phalanx of the 5th fingerHPOHP:0004220
- Frequent (30% to 79% of cases)
- Short thumbHPOHP:0009778
- 13 of 77 reported patients
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 39 of 77 reported patients
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormality of the kidneyHPOHP:0000077
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYCNHGNC:7559
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
14 names
Resolves to: Feingold syndrome type 1
- Also called
- Brunner-Winter syndrome type 1digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1Feingold syndrome caused by mutation in MYCNFGLDS1FS1microcephaly-digital anomalies-normal intelligence syndrome type 1microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1MMT type 1MODED syndrome type 1MYCN Feingold syndromeoculo-digito-esophageal-duodenal syndrome type 1ODED syndrome type 1