Stuve-Wiedemann syndrome 2
MONDO:0030756Mondo
Findings
No curated finding names Stuve-Wiedemann syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death · Stillbirth · Death in adolescence · Fetal onset
HPO, annotations 2026-09-02
Features
15 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.
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients
- Bowing of the long bonesHPOHP:0006487
- 5 of 6 reported patients
- Respiratory distressHPOHP:0002098
- 2 of 3 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 1 of 2 reported patients
- ThrombocytopeniaHPOHP:0001873
- 1 of 2 reported patients
- CamptodactylyHPOHP:0012385
- 2 of 6 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 3 reported patients
- DysphagiaHPOHP:0002015
- 1 of 3 reported patients
- Motor delayHPOHP:0001270
- 1 of 3 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 3 reported patients
- Disseminated intravascular coagulationHPOHP:0005521
- 1 of 6 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 6 reported patients
Show the remaining 3
- ScoliosisHPOHP:0002650
- 1 of 6 reported patients
- Short long boneHPOHP:0003026
- 1 of 6 reported patients
- Thoracic hypoplasiaHPOHP:0005257
- 1 of 6 reported patients
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.
- IL6STHGNC:6021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Stuve-Wiedemann syndrome 2
- Also called
- STWS2