ORPHA:97360
Robinow syndrome
Synonyms: Acral dysostosis with facial and genital abnormalities · Fetal face syndrome · Mesomelic dwarfism-small genitalia syndrome · Robinow dwarfism · Robinow-Silverman-Smith syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Robinow syndrome | Acral dysostosis with facial and genital abnormalities · Fetal face syndrome · Mesomelic dwarfism-small genitalia syndrome · Robinow dwarfism · Robinow-Silverman-Smith syndrome |
| fr | Syndrome de Robinow | Dysostose acrale avec anomalies faciales et génitales · Nanisme type Robinow · Syndrome de Robinow-Silverman-Smith |
| de | Robinow-Syndrom | Robinow-Kleinwuchs · Robinow-Silverman-Smith-Syndrom · Akrale Dysostose - Gesichts- und Genitalanomalien · Fetal face-Syndrom · Mesomeler Kleinwuchs-kleine Genitalien-Syndrom |
| es | Síndrome de Robinow | Disostosis acral con anomalías faciales y genitales · Enanismo de Robinow · Síndrome de Robinow-Silverman-Smith · Síndrome de cara fetal · Síndrome de enanismo mesomélico-genitales pequeños |
| it | Sindrome di Robinow | Disostosi acrale con anomalie facciali e genitali · Nanismo di Robinow · Sindrome del viso fetale · Sindrome di Robinow-Silverman-Smith · Sindrome nanismo mesomelico-genitali piccoli |
| nl | Syndroom van Robinow | Acrale dysostose met faciale en genitale anomalieën · Foetaal aangezichtsyndroom · Mesomele dwerggroei - kleine genitaliën-syndroom · Robinow-dwerggroei · Syndroom van Robinow-Silverman-Smith |
| pt | Síndrome de Robinow | |
| pl | Zespół Robinowa | Dyzostoza kończyn z nieprawidłowościami twarzy i narządów płciowych · Niskorosłość Robinowa · Zespół niskorosłość mezomeliczna - małe narządy płciowe · Zespół Robinowa, Silvermana i Smitha |
| cs | Robinowův syndrom | Akrální dysostóza s faciálními a genitálními abnormalitami · Syndrom zahrnující mesomelické trpaslictví a malý genitál · Robinowovo trpaslictví · Syndrom fetální tváře · Robinowův-Silvermanův-Smithové syndrom · Robinow-Silverman-Smithové syndrom |
| uk | Синдром Робінова | Акральний дизостоз з аномаліями обличчя та геніталій · Синдром обличчя плода · Синдром мезомелічної карликовості - малих геніталій · Карликовість Робінова · Синдром Робінова-Сільвермана-Сміта |
| zh | Robinow综合征 | 髋关节发育不良伴面部和生殖器异常 |
| tr | Robinow sendromu | Robinow cücelik · Fetal yüz sendromu · Robinow-Silverman-Smith sendromu · Mezomelik cücelik-küçük genitalya sendromu · Fasiyal ve genital anormallikler ile seyreden akral dizostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180700 | BTNT | validated | |
| OMIM | 268310 | BTNT | validated | |
| OMIM | 616331 | BTNT | validated | |
| OMIM | 616894 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0019978 | E | validated | |
| MeSH | C562492 | E | validated | |
| UMLS | C0265205 | E | validated | |
| GARD | 312 | E | validated | |
| MedDRA | 10084325 | 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 (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
4
Genes
0 direct · 6 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| NXN | ORPHA:1507Autosomal recessive Robinow syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18008 | ENSG00000167693 | 612895 | 17p13.3 | nucleoredoxin | 29276006[PMID] |
| ROR2 | ORPHA:1507Autosomal recessive Robinow syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10257 | ENSG00000169071 | 602337 | 9q22.31 | receptor tyrosine kinase like orphan receptor 2 | 20301418[PMID] |
| DVL1 | ORPHA:3107Autosomal dominant Robinow syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:3084 | ENSG00000107404 | 601365 | 1p36.33 | dishevelled segment polarity protein 1 | 25817016[PMID] |
| DVL3 | ORPHA:3107Autosomal dominant Robinow syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:3087 | ENSG00000161202 | 601368 | 3q27.1 | dishevelled segment polarity protein 3 | 26924530[PMID] |
| FZD2 | ORPHA:3107Autosomal dominant Robinow syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:4040 | ENSG00000180340 | 600667 | 17q21.31 | frizzled class receptor 2 | 29276006[PMID] |
| WNT5A | ORPHA:3107Autosomal dominant Robinow syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:12784 | ENSG00000114251 | 164975 | 3p14.3 | Wnt family member 5A | 19918918[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | 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.
6
HPO phenotypes
65 annotations · validated 2021-03-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003027 | Mesomelia | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0003086 | Acromesomelia | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000316 | Hypertelorism | |
| HP:0005011 | Mesomelic arm shortening | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0010296 | Ankyloglossia | |
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0009611 | Bifid distal phalanx of the thumb | |
| HP:0010297 | Bifid tongue | |
| HP:0001156 | Brachydactyly | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0000455 | Broad nasal tip | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000028 | Cryptorchidism | |
| HP:0000678 | Dental crowding | |
| HP:0000689 | Dental malocclusion | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000454 | Flared nostrils | |
| HP:0002007 | Frontal bossing | |
| HP:0030039 | Fused thoracic vertebrae | |
| HP:0000212 | Gingival overgrowth | |
| HP:0002937 | Hemivertebrae | |
| HP:0009890 | High anterior hairline | |
| HP:0000126 | Hydronephrosis | |
| HP:0000668 | Hypodontia | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0011800 | Midface retrusion | |
| HP:0000921 | Missing ribs | |
| HP:0002164 | Nail dysplasia | |
| HP:0000202 | Orofacial cleft | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0010882 | Pulmonary valve atresia | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0006439 | Radioulnar dislocation | |
| HP:0000902 | Rib fusion | |
| HP:0002650 | Scoliosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0003196 | Short nose | |
| HP:0001792 | Small nail | |
| HP:0000046 | Small scrotum | |
| HP:0001159 | Syndactyly | |
| HP:0000692 | Tooth malposition | |
| HP:0000207 | Triangular mouth | |
| HP:0011662 | Tricuspid atresia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0030264 | Webbed penis | |
| Very rare (<4-1%) | ||
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0006291 | Marked delay in eruption of permanent teeth | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25577943[PMID]_20301418[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97360
- This record as JSON: /data/d/97360.json