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]

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]

The presented case had most of the craniofacial and oral manifestations of RRS, craniofacial features being more prominent. [contempclindent.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]

• Depressed Nasal Bridge

  Figure 1: Depressed nasal bridge, an elongated philtrum, right syndactyly between the fourth and fifth fingers Click here to view His laboratory investigations were within normal limits. [karnatakaanaesthj.org]

  Robinow syndrome is characterized by mesomelic limb shortening, macrocephaly, dysmorphic facial features (hypertelorism, midfacial hypoplasia, short nose with depressed nasal bridge and tented upper lip), hypoplastic external genitalia in males, and renal [ctgt.net]

  nasal bridge ; Downslanted palpebral fissures ; Duplication of the distal phalanx of hand ; Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism ; Hypoplastic labia majora ; Hypoplastic sacrum [mousephenotype.org]

  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 / [csbg.cnb.csic.es]

  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]

  anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge, anteverted nares, long philtrum, gingival hyperplasia, short oral frenulum, posteriorly [databases.lovd.nl]

• High Nasal Root

  We hypothesize that thisFig. 2. af: Patient 2 at age of 40years. a:Mesomele brachymelia of the arms. b: Apparent hypertelorismwithabroadnasal root, short nose, broadmouthwith a tented upper lip. c: High nasal root. d: Brachydactyly. e: Shortened distal [documents.tips]

• Mid-Face Hypoplasia

  Figure 1: (a) Short stature, macrocephaly, and frontal bossing fetal-facies hypertelorism, pseudo-exophthalmos and mid-face hypoplasia, (b) brachydactyly and clinodactyly, (c) dysplastic nails of toes Click here to view The patient had multiple vertebral [contempclindent.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 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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

A 5.5-year-old male child diagnosed as RRS reported to the Department of Pediatric Dentistry for the treatment of decayed teeth. The child weighed 10 kg and had an average IQ. [contempclindent.org]

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]

Since the description of autosomal dominant Robinow Syndrome (ADRS; OMIM 180700) in 1969 by Meinhard Robinow and colleagues, the molecular etiology remained elusive until only recently. [repository.ubn.ru.nl]

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]

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]

[…] 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]

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]

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 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]

Robinow syndrome and fusion of primary teeth Department of Pediatric and Preventive Dentistry, Nair Hospital Dental College, Mumbai, Maharashtra, India Date of Web Publication 14-Sep-2017 Correspondence Address : Priti Sushil Jain Department of Pediatric [contempclindent.org]