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Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Short rib-polydactyly syndrome type 3


Presentation

  • Variants of type 3 SRPS with normal or hypo-plastic fi bulae have been presented, but type 3 with ab-sence of fi bulae which is typical for type 1 has not been presented.[docslide.com.br]
  • Author information 1 Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. taka0197@med.hokudai.ac.jp Abstract We present a case of short-rib polydactyly syndrome (SRPs) type 3 in which accurate prenatal[ncbi.nlm.nih.gov]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • AB - We present a case of short-rib polydactyly syndrome (SRPs) type 3 in which accurate prenatal diagnosis was feasible using both ultrasonography and 3D-CT. SRP encompass a heterogeneous group of lethal skeletal dysplasias.[okayama.pure.elsevier.com]
  • […] rib-polydactyly syndrome type 3 Prevalence: - Inheritance: Autosomal recessive Age of onset: Antenatal, Neonatal ICD-10: Q77.2 OMIM: 613091 614091 615503 615633 UMLS: C0432197 MeSH: C537602 GARD: 4835 MedDRA: - The documents contained in this web site are presented[orpha.net]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.de]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Weakness
  • Type 1 is distinguished from type 3 by more genitouri-nary, cardiovascular and gastrointestinal anomalies, fe-male predominance, pointed femurs on both ends, fl at-tened acetabular roofs, hypoplastic iliac bones, weak cor-ticomedullary demarcation border[docslide.com.br]
Coarctation of the Aorta
  • Type 3 is distinguished from type 1 by 50% male predominance, often no poly-dactyly, coarctation of the aorta, hypoplastic left and right side chambers of the heart, wide metaphyseal ends of the tubular bones, fan-shaped iliac bones and less severe ra-diologic[docslide.com.br]
Pleural Effusion
  • Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.[rarediseases.oscar.ncsu.edu]
Barrel Chest
  • In prenatal ultrasonographic evaluation, our case showed short ribs, barrel chest, short extremities, post-axial polydactyly with tubular bones with widened me-taphyses and lateral spurs; visceral anomalies were absent during autopsy, X-ray showed small[docslide.com.br]
Abdominal Bloating
  • Showing of 46 80%-99% of people have these symptoms Abdominal distention Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ] 0003270 Abnormal pelvis bone ossification 0009106 Abnormality of the metaphysis Abnormality of the wide portion[rarediseases.info.nih.gov]
Skin Edema
  • Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.[rarediseases.oscar.ncsu.edu]
Low Nasal Root
  • Absent or minimally ossified vertebral bodies Depressed nasal bridge Concave nasal bridge, Flat, nasal bridge, Flat bridge of nose, Flat nasal root, Low nasal bridge, Low nasal root, Concave bridge of nose, Depressed nasal root/bridge, Depressed nasal[rarediseases.oscar.ncsu.edu]
  • nasal root [ more ] 0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Frontal bossing 0002007 Hydronephrosis 0000126 Hydrops fetalis 0001789 Hypoplasia of penis Underdeveloped penis 0008736 Long philtrum 0000343 Macrocephaly Increased[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • bridge, Depressed bridge of nose, Depressed nasal bridge [more] Posterior positioning of the nasal root in relation to the overall facial profile for age.[rarediseases.oscar.ncsu.edu]
  • bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Frontal bossing 0002007 Hydronephrosis[rarediseases.info.nih.gov]
Withdrawn
  • […] symbols: DIC5, FAP133, MGC20486, bA216B9.3 ), DYNC2H1 (Withdrawn symbols: DHC1b, DHC2, DNCH2, DYH1B, hdhc11 ), WDR35 (Withdrawn symbols: IFT121, IFTA1, KIAA1336, MGC33196 ), IFT80 (Withdrawn symbols: KIAA1374, WDR56 ), WDR60 (Withdrawn symbols: FAP163[mousephenotype.org]
Clitoromegaly
  • Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement.[rarediseases.oscar.ncsu.edu]

Workup

Small Kidney
  • Renal hypoplasia Hypoplastic kidneys, Underdeveloped kidneys, Hypoplastic kidney, Small kidneys [more] Hypoplasia of the kidney. Cryptorchidism Cryptorchism, Undescended testes, Undescended testis [more] Testis in inguinal canal.[rarediseases.oscar.ncsu.edu]
  • kidneys Underdeveloped kidneys [ more ] 0000089 Urethrovaginal fistula 0008716 Uterus didelphys 0003762 Wide nose Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ] 0000445 5%-29% of people[rarediseases.info.nih.gov]
Pericardial Effusion
  • Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.[rarediseases.oscar.ncsu.edu]
Cytoplasmic Inclusion Bodies
  • inclusion bodies "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and bony ends. ( 11815874 ) This deformity resulted from a ’tandem’ change in endochondral bone formation that is, arrested orthotopic cartilage maturation[humpath.com]
Pleural Effusion
  • Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.[rarediseases.oscar.ncsu.edu]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment - Short rib-polydactyly syndrome- Verma-Naumoff type Not supplied. Resources - Short rib-polydactyly syndrome- Verma-Naumoff type Not supplied.[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • There is no available treatment to cure Short rib-polydactyly syndrome because the abnormal bone development during the prenatal stage is permanent & irreversible.[signssymptoms.org]

Prognosis

  • Prognosis - Short rib-polydactyly syndrome- Verma-Naumoff type Not supplied. Treatment - Short rib-polydactyly syndrome- Verma-Naumoff type Not supplied. Resources - Short rib-polydactyly syndrome- Verma-Naumoff type Not supplied.[checkorphan.org]
  • These include: congenital cardiac anomalies congenital renal anomalies Treatment and prognosis SRPSs are lethal anomalies and management is often supportive. skeletal dysplasias lethal skeletal dysplasias Jeune syndrome : occasionally characterized as[radiopaedia.org]
  • Infants born with Short rib-polydactyly syndrome have poor prognosis, the reason why newborns with this syndrome are given minimum care to keep them warm & comfortable & no extreme measure to prolong life is carried out.[signssymptoms.org]
  • Prognosis Ellis-van Creveld syndrome is generally non-lethal with approximately two-thirds of those affected surviving to adulthood. Mortality is higher when the congenital heart defects associated with EvC syndrome are also present.[encyclopedia.com]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Causes - Short rib-polydactyly syndrome- Verma-Naumoff type Other Possible Causes of these Symptoms * Extra fingers Prevention - Short rib-polydactyly syndrome- Verma-Naumoff type Not supplied.[checkorphan.org]
  • All affected infants with short-rib polydactyly syndrome have severe pulmonary hypoplasia that prevents extrauterine survival. Chromosomes are usually normal. Genes responsible for these conditions have not yet been identified.[mhmedical.com]
  • Treatment and management Genetic counseling of individuals affected with either Ellis-van Creveld syndrome or the allelic disorder, Weyers acrofacial dysostosis, may prevent the conception of children with EvC syndrome.[encyclopedia.com]

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