Stüve-Wiedemann syndrome 1
Findings
No curated finding names Stüve-Wiedemann syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
Definition from the Mondo Disease Ontology (MONDO:0800043), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
80 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.
- Abnormality of temperature regulationHPOHP:0004370
- 6 of 6 reported patients
- Absent corneal reflexHPOHP:0034252
- 8 of 8 reported patients
- Anteverted naresHPOHP:0000463
- 6 of 6 reported patients
- CamptodactylyHPOHP:0012385
- 6 of 6 reported patients
- Carious teethHPOHP:0000670
- 3 of 3 reported patients
- Contracture of the proximal interphalangeal joint of the 5th fingerHPOHP:0009185
- 6 of 6 reported patients
- Deeply set eyeHPO
Show the remaining 68
- HyperhidrosisHPOHP:0000975
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Impaired pain sensationHPOHP:0007328
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Low hanging columellaHPOHP:0009765
- 6 of 6 reported patients
- Low-set earsHPOHP:0000369
- 6 of 6 reported patients
- Metaphyseal rarefactionHPOHP:0004980
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.
- LIFRHGNC:6597
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: Stüve-Wiedemann syndrome 1
- Also called
- neonatal Schwartz-Jampel syndromeSchwartz-Jampel syndrome neonatalSchwartz-Jampel syndrome type 2Schwartz-Jampel syndrome, neonatalSJS2Stüve-Wiedemann dysplasiaStuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromeStüve-Wiedemann/Schwartz-Jampel type 2 syndromeSTWS