Feingold syndrome type 2
Findings
No curated finding names Feingold syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.
Definition from the Mondo Disease Ontology (MONDO:0013691), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Intellectual disabilityHPOHP:0001249
- 13 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Very frequent (80% to 99% of cases)
- 2-3 toe syndactylyHPOHP:0004691
- 11 of 14 reported patients
Show the remaining 10
- Jejunal atresiaHPOHP:0005235
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Short thumbHPOHP:0009778
- 5 of 14 reported patients
- Frequent (30% to 79% of cases)
- Toe syndactylyHPOHP:0001770
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
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.
- HGNC:23564HGNC:23564
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
7 names
Resolves to: Feingold syndrome type 2
- Also called
- brachydactyly-short stature-microcephaly syndromeBrunner-Winter syndrome type 2FGLDS2FS2microcephaly-digital anomalies-normal intelligence syndrome type 2microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2MMT type 2