Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
81 signs/symptoms
PROTEIN INTERACTIONS: 1
8 OMIM references -
10 associated genes
No signs/symptoms info
Autosomal recessive Robinow syndrome
Osteogenesis imperfecta type 3

ROR2 BMP1
COL1A1
COL1A2
CREB3L1
CRTAP
LEPRE1
PPIB
SERPINF1
SERPINH1
WNT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ROR2
(0.63)
WNT1



Citations in the biomedical literature:


Autosomal recessive Robinow syndrome
ROR2
Osteogenesis imperfecta type 3
BMP1 COL1A1 COL1A2 CREB3L1 CRTAP LEPRE1
PPIB SERPINF1 SERPINH1 WNT1



Autosomal recessive Robinow syndrome
Osteogenesis imperfecta type 3

Synonym(s):
- COVESDEM syndrome
- Costovertebral segmentation defect - mesomelia
- RRS

Synonym(s):
- OI type 3
- Progressive deforming osteogenesis imperfecta
- Severe osteogenesis imperfecta

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535863
External references:
8 OMIM references -
1 MeSH reference: C536044

Autosomal recessive Robinow syndrome

Very frequent
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Clinodactyly of fifth finger
- Dental malocclusion
- Downturned mouth
- Hypertelorism
- Macrostomia / big mouth
- Mesomelic micromelia
- Micropenis / small penis / agenesis
- Mid-facial hypoplasia / short / small midface
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Terminal / third phalangeal bone of fingers hypoplasia
- Tooth shape anomaly
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Ankyloglossia / lingual synechiae
- Broad / bifid big toe
- Broad / bifid thumb
- Chronic / relapsing otitis
- Cleft / notched / bifid tongue
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Depressed nasal bridge
- Dysplastic / thick / grooved fingernails
- Elbow dislocation
- Epicanthic folds
- Euryblepharon / wide palpebral fissures
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Kyphosis
- Long philtrum
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pectus excavatum
- Proptosis / exophthalmos
- Rib number anomalies
- Scoliosis
- Tented upper lip
- Thickened / hypertrophic / fibromatous gingivae
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Alopecia
- Anodontia / oligodontia / hypodontia
- Anus ectopia / anteposition / malposition
- Atrial septal defect / interauricular communication
- Blue sclerae
- Camptodactyly of fingers
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Carpal bones fusion / synostosis
- Cleft lip and palate
- Death in infancy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Exaggerated cupid bows
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Multicystic kidney / renal dysplasia
- Oligodactyly / ectrodactyly of fingers
- Pectus carinatum
- Ptosis
- Pulmonary valve atresia / stenosis / narrowing
- Repeat respiratory infections
- Sacral sinus / dimple
- Short neck
- Short philtrum
- Simian crease / transverse / unique palmar crease
- Strabismus / squint
- Supernumerary teeth / polyodontia
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Tetralogy of Fallot / trilogy of Fallot
- tricuspid valve atresia / stenosis / narrowing
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes


Osteogenesis imperfecta type 3

(no data available)