ORPHA:3107
Autosomal dominant Robinow syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Robinow syndrome | |
| fr | Syndrome de Robinow autosomique dominant | |
| de | Robinow-Syndrom, autosomal-dominantes | |
| es | Síndrome de Robinow autosómico dominante | |
| it | Sindrome di Robinow autosomica dominante | |
| nl | Autosomaal dominant syndroom van Robinow | |
| pt | Síndrome Robinow autossómica dominante | Síndrome da face fetal |
| pl | Autosomalny dominujący zespół Robinowa | |
| cs | Autozomálně dominantní Robinowův syndrom | |
| uk | Аутосомно-домінантний синдром Робінова | |
| zh | 常染色体显性遗传Robinow综合征 | |
| tr | Otozomal dominant Robinow sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180700 | E | validated | |
| OMIM | 616331 | BTNT | validated | |
| OMIM | 616894 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0008389 | E | validated | |
| UMLS | C5200540 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:97360Robinow syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DVL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3084 | ENSG00000107404 | 601365 | 1p36.33 | dishevelled segment polarity protein 1 | 25817016[PMID] |
| DVL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3087 | ENSG00000161202 | 601368 | 3q27.1 | dishevelled segment polarity protein 3 | 26924530[PMID] |
| FZD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4040 | ENSG00000180340 | 600667 | 17q21.31 | frizzled class receptor 2 | 29276006[PMID] |
| WNT5A | Disease-causing germline mutation(s) in | Assessed | HGNC:12784 | ENSG00000114251 | 164975 | 3p14.3 | Wnt family member 5A | 19918918[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
80 annotations · validated 2017-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001156 | Brachydactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002983 | Micromelia | |
| HP:0011800 | Midface retrusion | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000168 | Abnormality of the gingiva | |
| HP:0010297 | Bifid tongue | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0007665 | Curly eyelashes | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0012905 | Euryblepharon | |
| HP:0002007 | Frontal bossing | |
| HP:0000212 | Gingival overgrowth | |
| HP:0002937 | Hemivertebrae | |
| HP:0002705 | High, narrow palate | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0000527 | Long eyelashes | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0009099 | Median cleft palate | |
| HP:0000347 | Micrognathia | |
| HP:0010807 | Open bite | |
| HP:0000767 | Pectus excavatum | |
| HP:0011220 | Prominent forehead | |
| HP:0000520 | Proptosis | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0004322 | Short stature | |
| HP:0001537 | Umbilical hernia | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000036 | Abnormality of the penis | |
| HP:0001596 | Alopecia | |
| HP:0000674 | Anodontia | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0000592 | Blue sclerae | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0005306 | Capillary hemangioma | |
| HP:0002673 | Coxa valga | |
| HP:0002812 | Coxa vara | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0003042 | Elbow dislocation | |
| HP:0000039 | Epispadias | |
| HP:0100541 | Femoral hernia | |
| HP:0006101 | Finger syndactyly | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0000668 | Hypodontia | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0010733 | Naevus flammeus of the eyelid | |
| HP:0000677 | Oligodontia | |
| HP:0040036 | Onychogryposis of fingernail | |
| HP:0000768 | Pectus carinatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0008402 | Ridged fingernail | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0011069 | Supernumerary tooth | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 19918918[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3107
- This record as JSON: /data/d/3107.json