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Autosomal-Recessive Robinow Syndrome

RRS


Presentation

  • Here, we present the clinical, radiological and molecular findings of 11 Egyptian patients from 7 unrelated consanguineous families with clinical features of ARRS.[ncbi.nlm.nih.gov]
  • Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.[uniprot.org]
Pain
  • PMID: 31066982 [PubMed - as supplied by publisher] ConclusionAny reproductive-aged woman with at least one ovary and a means for sperm to meet egg should be screened for pregnancy if she presents with an acute abdomen or abdominal or pelvic pain.[medworm.com]
  • The following are potential complications that may arise from Robinow Syndrome: Obstruction of blood flow to the pulmonary artery (pulmonary stenosis) causing labored breathing, chest pain, and fatigue.[dovemed.com]
  • Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain[en.wikipedia.org]
Virilization
  • Puberty tookplace spontaneously at 13 years with normal virilization andpersistence of micropenis.Examination at 40 years showed a height of 160 cm (MUTATIONAL ANALYSISGenomic DNA was extracted from peripheral blood with asalting out technique (GenoVision[documents.tips]
Macrostomia
  • […] references: 1 OMIM reference - 1 MeSH reference: C535863 Very frequent - Anteverted nares / nostrils - Autosomal recessive inheritance - Broad nose / nasal bridge - Clinodactyly of fifth finger - Dental malocclusion - Downturned mouth - Hypertelorism - Macrostomia[csbg.cnb.csic.es]
Blue Sclera
  • unfixed testes - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Alopecia - Anodontia / oligodontia / hypodontia - Anus ectopia / anteposition / malposition - Atrial septal defect / interauricular communication - Blue[csbg.cnb.csic.es]
Carpal Bone Fusion
  • 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[csbg.cnb.csic.es]
Coxa Valga
  • 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[csbg.cnb.csic.es]
Withdrawn
  • […] symbols: BDB, BDB1, NTRKR2 ) Mouse Orthologs Ror2 (Withdrawn symbols: Ntrkr2 ) Source OMIM:268310 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models[mousephenotype.org]
Nasal Bridge Depressed
  • 1%-4% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Bifid tongue Cleft tongue Forked tongue Split tongue [ more ] 0010297 Depressed nasal bridge Depressed bridge[rarediseases.info.nih.gov]
Large Anterior Fontanels
  • Symptoms - Robinow syndrome- autosomal recessive * Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing Causes - Robinow syndrome- autosomal recessive Robinow syndrome has autosomal dominant inheritance; in other[checkorphan.org]
Dysuria
  • Here, we present the pheno-type of twounrelatedmale adults harboringnovelmutations ofROR2.CLINICAL REPORTSPatient 1A 28-year-old Turkish patient presented with dysuria. Hisparents were first cousins.[documents.tips]

Treatment

  • Treatment or Management of the Condition Treatment options are available for Robinow syndrome. The most common treatment option is surgical correction. Other treatment options are growth hormone therapy, dental therapy, and counseling.[wiki.ggc.edu]
  • The treatment varies from one patient to another depending on the present symptoms. Surgical correction of the physical deformities is the most common treatment option.[hxbenefit.com]
  • The treatment for Robinow Syndrome is geared towards managing the signs and symptoms of the condition.[dovemed.com]
  • Treatment Treatment of symptomatic syndrome Robinova. Prevention Prevention of the disease is to determine the likelihood of having a child with this anomaly.[health-and-beaty.blogspot.com]
  • Standard Therapies Treatment The treatment of Robinow syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]

Prognosis

  • Prognosis Prognosis of Robinow syndrome is generally good but the severity of heart disorders may affect life expectancy. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis - Robinow syndrome- autosomal recessive Not supplied. Treatment - Robinow syndrome- autosomal recessive Not supplied. Resources - Robinow syndrome- autosomal recessive Not supplied.[checkorphan.org]
  • What is the Prognosis of Robinow Syndrome? (Outcomes/Resolutions) The prognosis of Robinow Syndrome is reported to be generally good with appropriate treatment measures The prognosis also depends on the severity of the signs and symptoms.[dovemed.com]

Etiology

  • Etiology Autosomal recessive Robinow syndrome is caused by mutations in the ROR2 gene (9q22). Mutations in the WNT5A gene (3p14.3) have been reported in some patients ( 10%) with autosomal dominant Robinow syndrome.[orpha.net]
  • (Etiology) Robinow Syndrome is caused by genetic mutations in three genes. The gene that is affected dictates the type of inheritance of the disorder.[dovemed.com]
  • However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method.[67.posterior.us]

Epidemiology

  • […] segmentation defect - mesomelia - RRS Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Summary Epidemiology Exact prevalence is unknown. About 200 cases have been reported to date. Cases have been reported primarily from the USA, Arab countries, Turkey, Czech Republic and Slovakia, the Indian subcontinent, and Brazil.[orpha.net]
  • In this case report, we presented the first report of Robinow syndrome in Iranian population, in order to improve the science and epidemiology related to this disease.[thritajournal.com]
Sex distribution
Age distribution

Pathophysiology

  • Molecular and Systemic Pathophysiology ROR2 contains nine exons and encodes a 4092-bp transcript. The ROR2...[link.springer.com]
  • Greater research into its pathophysiology is required to advance preventative measures. Expectant parents often have optimistic expectations of the obstetric ultrasound examination and are unprepared for a diagnosis of foetal anomaly.[medworm.com]

Prevention

  • Prevention Prevention of the disease is to determine the likelihood of having a child with this anomaly. To do this, conducted a survey of both parents, as well as installed instances of the disease in relatives.[health-and-beaty.blogspot.com]
  • Robinow Syndrome Prevention It is not possible to prevent the genetic disorder in advance as the factors that trigger the gene mutations are not known.[hxbenefit.com]
  • Prevention - Robinow syndrome- autosomal recessive Not supplied. Diagnosis - Robinow syndrome- autosomal recessive Not supplied. Prognosis - Robinow syndrome- autosomal recessive Not supplied.[checkorphan.org]
  • Greater research into its pathophysiology is required to advance preventative measures. Expectant parents often have optimistic expectations of the obstetric ultrasound examination and are unprepared for a diagnosis of foetal anomaly.[medworm.com]

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