ODCs

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Autosomal recessive Robinow syndrome

1 OMIM reference -
1 associated gene
81 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 58

Autosomal dominant Robinow syndrome

1 OMIM reference -
1 associated gene
61 signs/symptoms

Autosomal recessive Robinow syndrome

Autosomal dominant Robinow syndrome

ROR2

(UniProt - OMIM)

WNT5A

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ROR2	(0.59)	WNT5A

Citations in the biomedical literature:

Autosomal recessive Robinow syndrome		Autosomal dominant Robinow syndrome
	Synonym(s): - COVESDEM syndrome - Costovertebral segmentation defect - mesomelia - RRS		Synonym(s): (no synonyms)

	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

	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: <1 / 1 000 000 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: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Alopecia - Anodontia / oligodontia / hypodontia - Anteverted nares / nostrils - Anus ectopia / anteposition / malposition - Blue sclerae - Broad nose / nasal bridge - Camptodactyly of fingers - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cleft lip and palate - Cleft / notched / bifid tongue - Clinodactyly of fifth finger - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Dental malocclusion - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Downturned mouth - Dysplastic / thick / grooved fingernails - Elbow dislocation - Epicanthic folds - Euryblepharon / wide palpebral fissures - Exaggerated cupid bows - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Mesomelic micromelia - Micrognathia / retrognathia / micrognathism / retrognathism - Micropenis / small penis / agenesis - Mid-facial hypoplasia / short / small midface - Multicystic kidney / renal dysplasia - Pectus carinatum - Pectus excavatum - Proptosis / exophthalmos - Ptosis - Repeat respiratory infections - Sacral sinus / dimple - Scoliosis - Short hand / brachydactyly - Short neck - Short philtrum - Short stature / dwarfism / nanism - Short / small nose - Strabismus / squint - Supernumerary teeth / polyodontia - Syndactyly of fingers / interdigital palm - Thickened / hypertrophic / fibromatous gingivae - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Vertebral segmentation anomaly / hemivertebrae

Autosomal recessive Robinow syndrome		Autosomal dominant Robinow syndrome
	Very frequent - Autosomal recessive inheritance - Macrostomia / big mouth - Terminal / third phalangeal bone of fingers hypoplasia - Tooth shape anomaly Frequent - Ankyloglossia / lingual synechiae - Broad / bifid big toe - Broad / bifid thumb - Chronic / relapsing otitis - Kyphosis - Rib number anomalies - Tented upper lip Occasional - Atrial septal defect / interauricular communication - Carpal bones fusion / synostosis - Death in infancy - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Oligodactyly / ectrodactyly of fingers - Pulmonary valve atresia / stenosis / narrowing - Simian crease / transverse / unique palmar crease - 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		Very frequent - Autosomal dominant inheritance Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Hypospadias / epispadias / bent penis