ORPHA:3206
Stüve-Wiedemann syndrome
Synonyms: Neonatal Schwartz-Jampel syndrome · SJS2 · STWS · SWS · Schwartz-Jampel syndrome type 2 · Stüve-Wiedemann dysplasia · Stüve-Wiedemann syndrome type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stüve-Wiedemann syndrome | Neonatal Schwartz-Jampel syndrome · SJS2 · STWS · SWS · Schwartz-Jampel syndrome type 2 · Stüve-Wiedemann dysplasia · Stüve-Wiedemann syndrome type 1 |
| fr | Syndrome de Stüve-Wiedemann | Dysplasie de Stüve-Wiedemann · SJS2 · STWS · SWS · Syndrome Schwartz-Jampel néonatal · Syndrome Schwartz-Jampel type 2 · Syndrome de Stüve-Wiedemann type 1 |
| de | Stüve-Wiedemann-Syndrom | SJS2 · STWS · SWS · Schwartz-Jampel-Syndrom Typ 2 · Schwartz-Jampel-Syndrom, neonatales · Stüve-Wiedemann Dysplasie · Stüve-Wiedemann-Syndrom Typ 1 |
| es | Síndrome de Stüve-Wiedemann | Displasia de Stüve-Wiedemann · SJS2 · Síndrome de Schwartz-Jampel neonatal · Síndrome de Schwartz-Jampel tipo 2 · Síndrome de Stüve-Wiedemann tipo 1 |
| it | Sindrome di Stuve-Wiedemann | Displasia di Stuve-Wiedemann · SJS2 · STWS · SWS · Sindrome di Schwartz-Jampel neonatale · Sindrome di Schwartz-Jampel tipo 2 · Sindrome di Stuve-Wiedemann tipo 1 |
| nl | Syndroom van Stüve-Wiedemann | Dysplasie van Stüve-Wiedemann · Neonataal syndroom van Schwartz-Jampel · SJS2 · STWS · SWS · Syndroom van Schwartz-Jampel type 2 |
| pt | Síndrome Stüve-Wiedemann | Displasia Stüve-Wiedemann · SJS2 · STWS · SWS · Síndrome Schwartz-Jampel neonatal |
| pl | Zespół Stüve'a i Wiedemanna | Dysplazja Stüve'a i Wiedemanna |
| cs | Stüveové-Wiedemannův syndrom | SJS2 · Stüveové-Wiedemannova dysplázie · Neonatální Schwartzův-Jampelův syndrom · Schwartzův-Jampelův syndrom, typ 2 · Stüveové-Wiedemannův/Schwartzův-Jampelův syndrom, typ 2 · Stüve-Wiedemannův syndrom · Neonatální Schwartz-Jampelův syndrom · Schwartz-Jampelův syndrom, typ 2 · Stüve-Wiedemannova dysplázie · Stüve-Wiedemannův/Schwartz-Jampelův syndrom, typ 2 |
| uk | Синдром Стюве-Відемана | Синдром Шварца-Ямпеля у новонароджених · Синдром Шварца-Ямпеля, тип 2 · SJS2 · Дисплазія Штюве-Відемана · Синдром Стьюве-Відемана, тип 1 · STWS · SWS |
| zh | St³ve-Wiedemann综合征 | 新生儿Schwartz-Jampel综合征 |
| tr | Stüve-Wiedemann sendromu | SJS2 · Stüve-Wiedemann displazisi · Schwartz-Jampel sendromu tip 2 · Yenidoğan Schwartz-Jampel sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601559 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.C | NTBT | index | validated |
| MONDO | 0800043 | E | validated | |
| MeSH | C537502 | E | validated | |
| UMLS | C0796176 | E | validated | |
| GARD | 5045 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93439Campomelic dysplasia and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LIFR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6597 | ENSG00000113594 | 151443 | 5p13.1 | LIF receptor subunit alpha | 24618404[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19207241[PMID] |
| Cases/families | 56 cases | Worldwide | Case(s) | Validated | 19207241[PMID] | |
| Prevalence at birth | 1-5 / 10 000 | 20 / 100 000 | United Arab Emirates | Value and class | Validated | 21337444[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
44 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0006487 | Bowing of the long bones | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0003016 | Metaphyseal widening | |
| HP:0002983 | Micromelia | |
| HP:0003401 | Paresthesia | |
| HP:0001954 | Recurrent fever | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000935 | Thickened cortex of long bones | |
| Frequent (79-30%) | ||
| HP:0002104 | Apnea | |
| HP:0002099 | Asthma | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0001371 | Flexion contracture | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0002857 | Genu valgum | |
| HP:0007328 | Impaired pain sensation | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001562 | Oligohydramnios | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0002757 | Recurrent fractures | |
| HP:0002098 | Respiratory distress | |
| HP:0002650 | Scoliosis | |
| HP:0010298 | Smooth tongue | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000211 | Trismus | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0006844 | Absent patellar reflexes | |
| HP:0008000 | Decreased corneal reflex | |
| HP:0100028 | Ectopic thyroid | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0000960 | Sacral dimple | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3206
- This record as JSON: /data/d/3206.json