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]

Thus the present case appears to be a recessive type RS ( 2 - 4 ). Table 1. [thritajournal.com]

Rib fusions appear to be present almost exclusively in the autosomal recessive form. Umbilical hernia and supernumerary teeth appear to be present exclusively in patients with the dominant form. [orpha.net]

• 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]

• Respiratory Disorders

  Associated conditions include frequent ear infections, hearing loss, developmental and respiratory disorders, hypotonia, eating difficulties and esophageal reflux. [orpha.net]

• Gingival Overgrowth

  overgrowth (HP:0000212), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Webbed neck (HP:0000465). [databases.lovd.nl]

  overgrowth Macrocephaly Epicanthus Hypertelorism Short philtrum Long philtrum Micrognathia Hearing impairment Low-set, posteriorly rotated ears Chronic otitis media ... ... [familydiagnosis.com]

  overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism ; Hypoplastic labia majora ; Hypoplastic sacrum ; Inguinal hernia ; Intellectual disability ; Long eyelashes ; Long palpebral fissure ; Long philtrum ; Low-set ears ; Macrocephaly [mousephenotype.org]

  overgrowth Gum enlargement 0000212 Global developmental delay 0001263 Hydronephrosis 0000126 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplastic labia majora Small labia majora Underdeveloped vaginal lips [ more ] 0000059 Hypoplastic [rarediseases.info.nih.gov]

• Heart Disease

  disease, genital hypoplasia, and dysmorphic facial features with gum hypertrophy. [link.springer.com]

  Four more case reports Aksit, S; Aydinlioðlu, H; Dizdarer, G; Çaðlayan, S; Bektaþlar, D; Cin, A Congenital heart disease in Robinow syndrome Al‐Ata, J; Paquet, M; Teebi, AS Robinow syndrome without mesomelic brachymelia a report of five cases Bain, MD [deepdyve.com]

  Consequences Robinova syndrome The disease often leads to ear infections, hearing loss muscular hypotension, respiratory diseases. Approximately 15% of patients who have congenital heart disease. [health-and-beaty.blogspot.com]

  Clin Dysmorphol;2:189–98. 8. https://rarediseases.org/rare-diseases/robinow-syndrome/ 9. Al-Ata J, Paquet M, Teebi AS. (1998 ) Congenital heart disease in Robinow syndrome. Am J Med Genet 77 : 332 –3. 10. [jmscr.igmpublication.org]

  In echocardiographic study of this patient, we found minor valve disease. Congenital heart disease in RS was also reported in another case presentation. The importance of this issue is the routine follow up of these patients regarding heart disease. [thritajournal.com]

• Hearing Impairment

  impairment Low-set, posteriorly rotated ears Chronic otitis media ... ... [familydiagnosis.com]

  Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. [thritajournal.com]

  Hearing impairment (HP:0000365) - - Isolated (sporadic) 33y - - - - Pieter Klap 00065226 0000051337 Frontal bossing (HP:0002007), Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Upslanting palpebral fissures (HP:0000582), Anteverted nares (HP [databases.lovd.nl]

• Depressed Nasal Bridge

  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]

  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]

  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]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.it]

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]

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]