ORPHA:319182
Wiedemann-Steiner syndrome
Synonyms: Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wiedemann-Steiner syndrome | Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome |
| fr | Syndrome de Wiedemann-Steiner | Syndrome d'hypertrichose-petite taille-dysmorphie faciale-retard de développement |
| de | Wiedemann-Steiner-Syndrom | Hypertrichose-Kleinwuchs-Gesichtsdysmorphie-Entwicklungsverzögerung-Syndrom |
| es | Síndrome de Wiedemann-Steiner | Síndrome de hipertricosis-talla baja-dismorfia facial-retraso del desarrollo |
| it | Sindrome di Wiedemann-Steiner | Sindrome ipertricosi-bassa statura-dismorfismi facciali-ritardo dello sviluppo |
| nl | Syndroom van Wiedemann-Steiner | Hypertrichose - kleine gestalte - faciale dysmorfie - ontwikkelingsachterstand-syndroom |
| pt | Síndrome Wiedemann-Steiner | Síndrome de hipertricose-baixa estatura-dismorfia facial-atraso no desenvolvimento |
| pl | Zespół Wiedemanna i Steinera | Zespół hipertrichoza-niski wzrost-dysmorfia twarzy-opóźnienie rozwoju |
| cs | Wiedemannův-Steinerův syndrom | Syndrom zahrnující hypertrichózu, nízký vzrůst, faciální dysmorfismus a opoždění vývoje · Wiedemann-Steinerův syndrom |
| uk | Синдром Відемана-Штайнера | Синдром гіпертрихозу - низькорослості - дизморфізму обличчя - затримки розвитку |
| zh | Wiedemann-Steiner综合征 | 多毛-身材矮小-面部畸形-发育迟缓综合征 |
| tr | Wiedemann-Steiner sendromu | Hipertrikoz-kısa boy-fasiyal dismorfizm-gelişme geriliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605130 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0011518 | E | validated | |
| UMLS | C1854630 | E | validated | |
| GARD | 5565 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KMT2A | Disease-causing germline mutation(s) in | Assessed | HGNC:7132 | ENSG00000118058 | 159555 | 11q23.3 | lysine methyltransferase 2A | 22795537[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 84 cases | Worldwide | Case(s) | Validated | ftp://ftp.sanger.ac.uk/pub/resources/theses/wj1/ | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27777327[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
58 annotations · validated 2018-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0004540 | Congenital, generalized hypertrichosis | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002015 | Dysphagia | |
| HP:0000324 | Facial asymmetry | |
| HP:0011968 | Feeding difficulties | |
| HP:0000752 | Hyperactivity | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000527 | Long eyelashes | |
| HP:0000343 | Long philtrum | |
| HP:0000744 | Low frustration tolerance | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000311 | Round face | |
| HP:0000736 | Short attention span | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001182 | Tapered finger | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0006712 | Aplasia/Hypoplasia of the ribs | |
| HP:0030084 | Clinodactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100581 | Dilatation of renal calices | |
| HP:0000268 | Dolichocephaly | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0012368 | Flat face | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0010485 | Hyperextensibility at elbow | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000767 | Pectus excavatum | |
| HP:0002361 | Psychomotor deterioration | |
| HP:0000508 | Ptosis | |
| HP:0008905 | Rhizomelia | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000664 | Synophrys | |
| HP:0000506 | Telecanthus | |
| HP:0000465 | Webbed neck | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29574747[PMID]_2738900[PMID]_2773989[PMID]_10826636[PMID]_12558109[PMID]_18019374[PMID]_20803650[PMID]_25810209[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319182
- This record as JSON: /data/d/319182.json