ORPHA:1507
Autosomal recessive Robinow syndrome
Synonyms: COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome · RRS
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive Robinow syndrome | COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome · RRS |
| fr | Syndrome de Robinow autosomique récessif | RRS · Syndrome COVESDEM · Syndrome d'anomalie de segmentation costovertébrale-mésomélie |
| de | Robinow-Syndrom, autosomal-rezessives | COVESDEM-Syndrom · RRS |
| es | Síndrome de Robinow autosómico recesivo | Defecto de la segmentación costovertebral-mesomelia · RRS · Síndrome COVESDEM |
| it | Sindrome di Robinow autosomica recessiva | Difetto della segmentazione costovertebrale - mesomelia · RRS · Sindrome COVESDEM |
| nl | Autosomaal recessief syndroom van Robinow | COVESDEM-syndroom · Costovertebraal segmentatiedefect - mesomelie-syndroom · RRS |
| pt | Síndrome Robinow autossómica recessiva | Síndrome COVESDEM |
| pl | Autosomalny recesywny zespół Robinowa | Defekt segmentacji żebrowo-kręgowej - mezomelia · RRS · Zespół COVESDEM |
| cs | Autozomálně recesivní Robinowův syndrom | COVESDEM syndrom · Syndrom zahrnující kostovertebrální poruchu segmentace a mesomelii · RRS |
| uk | Аутосомно-рецесивний синдром Робінова | Синдром дефекту костовертебральної сегментації - мезомелія · Синдром COVESDEM · RRS |
| zh | 常染色体隐性Robinow综合征 | 肋椎节段缺损-肢中综合征 |
| tr | Otozomal resesif Robinow sendromu | RRS · COVESDEM sendromu · Kostovertebral segmentasyon defekti-mezomeli sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268310 | BTNT | validated | |
| OMIM | 618529 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0009999 | E | validated | |
| MeSH | C535863 | E | validated | |
| UMLS | C1849334 | 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:97360Robinow syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NXN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18008 | ENSG00000167693 | 612895 | 17p13.3 | nucleoredoxin | 29276006[PMID] |
| ROR2 | 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] |
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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 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000463 | Anteverted nares | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0003027 | Mesomelia | |
| HP:0011800 | Midface retrusion | |
| HP:0010807 | Open bite | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0003196 | Short nose | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0010296 | Ankyloglossia | |
| HP:0010297 | Bifid tongue | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000389 | Chronic otitis media | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003042 | Elbow dislocation | |
| HP:0000286 | Epicanthus | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0002007 | Frontal bossing | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000365 | Hearing impairment | |
| HP:0012815 | Hypoplastic female external genitalia | |
| HP:0002808 | Kyphosis | |
| HP:0000527 | Long eyelashes | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0000902 | Rib fusion | |
| HP:0002650 | Scoliosis | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0001537 | Umbilical hernia | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0001596 | Alopecia | |
| HP:0001631 | Atrial septal defect | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000592 | Blue sclerae | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001522 | Death in infancy | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0004397 | Ectopic anus | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0006101 | Finger syndactyly | |
| HP:0000126 | Hydronephrosis | |
| HP:0000668 | Hypodontia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001052 | Nevus flammeus | |
| HP:0000202 | Orofacial cleft | |
| HP:0000768 | Pectus carinatum | |
| HP:0000508 | Ptosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000960 | Sacral dimple | |
| HP:0001852 | Sandal gap | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0001171 | Split hand | |
| HP:0000486 | Strabismus | |
| HP:0011069 | Supernumerary tooth | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
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/1507
- This record as JSON: /data/d/1507.json