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Start free with EleplanStüve-Wiedemann syndrome
ORPHA:3206Malformation syndrome
Also called Neonatal Schwartz-Jampel syndrome · SJS2 · STWS · SWS · Schwartz-Jampel syndrome type 2 · Stüve-Wiedemann dysplasia · Stüve-Wiedemann syndrome type 1
What it is
Stüve-Wiedemann syndrome (SWS) is 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
17- Abnormal autonomic nervous system physiology
- Abnormal cortical bone morphology
- Abnormality of the eye
- Abnormality of vision
- Abnormal metaphysis morphology
- Bowing of the long bones
- Camptodactyly of finger
- Feeding difficulties in infancy
- Hyperhidrosis
- Hypohidrosis
- Metaphyseal widening
- Micromelia
- Paresthesia
- Recurrent fever
- Short stature
- Skeletal dysplasia
- Thickened cortex of long bones
Common30–79%
20- Apnea
- Asthma
- Elbow flexion contracture
- Flexion contracture
- Flexion contracture of finger
- Genu valgum
- Impaired pain sensation
- Intrauterine growth retardation
- Knee flexion contracture
- Lacrimation abnormality
- Limitation of joint mobility
- Oligohydramnios
- Osteopenia
- Osteoporosis
- Recurrent fractures
- Respiratory distress
- Scoliosis
- Smooth tongue
- Talipes equinovarus
- Trismus
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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