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Saldino-Noonan Syndrome

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Presentation

  • We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented.[lookfordiagnosis.com]
  • ORPHA:93270 Synonym(s): Short rib-polydactyly syndrome type 1 Prevalence: - Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q77.2 OMIM: 613091 UMLS: C0036069 MeSH: - GARD: 4834 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • The clinical, radiological and anatomo-pathological differences between the four presently known types of the SRP syndrome are described.[ncbi.nlm.nih.gov]
  • ) Epispadia Dandy–Walker malformation Urogenital anomalies (ambiguous genitalia) Hydrops fetalis X-ray Short horizontal ribs Trident-shaped pelvis Square iliac wings Horizontal acetabular roofs with medial spurs Proximal femoral ossification centers present[fetalultrasound.com]
Chills
  • (某一事物的)全部特征;特征群;(具 ...... details syndrome syndrome : 综合征综合征(指意义十分不明确的综合征)... details 5p syndrome : 猫叫综合征... details a and v syndrome : av综合征:水平性斜视在向上或向下注视时,可产生集合增加或散开增加的现象而呈 ...... details a syndrome of chills : 寒证... details Related "noonan" in Chinese[eng.ichacha.net]
Increased Susceptibility to Infections
  • Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease.[lookfordiagnosis.com]
Neonate-Onset
  • Homepage Rare diseases Search Search for a rare disease Short rib-polydactyly syndrome, Saldino-Noonan type Disease definition Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized[orpha.net]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • Please always consult your primary doctor for final diagnosis and treatment.[xmri.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- Saldino-Noonan type Not supplied. Resources - Short rib-polydactyly syndrome- Saldino-Noonan type Not supplied.[checkorphan.org]

Prognosis

  • Prognosis - Short rib-polydactyly syndrome- Saldino-Noonan type Not supplied. Treatment - Short rib-polydactyly syndrome- Saldino-Noonan type Not supplied. Resources - Short rib-polydactyly syndrome- Saldino-Noonan type Not supplied.[checkorphan.org]
  • Prognosis: The condition is lethal due to severe pulmonary hypoplasia. Recurrence: Autosomal recessive inheritance: 25%.[fetalmedicine.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]
  • One study of 13 patients found that in most study subjects, the condition became less pronounced as patients aged (4), and that prognosis improved.[forgottendiseases.org]
  • Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.[ojrd.biomedcentral.com]

Etiology

  • […] fact that we know very little about basic biochemical mechanisms in the majority of the chondrodystrophic conditions, descriptive morphology is still important as it frequently leads to recognition of further cases and ultimately to information on the etiology[pediatrics.aappublications.org]
  • The association of Turner syndrome with HLH, as well as other known genetic etiologies of HLH, underscores the need for a detailed genetic evaluation in all patients with HLH and argues for cytogenetic analysis for even nondysmorphic females with HLH.[jamanetwork.com]

Epidemiology

  • Congenital chylothorax: a prospective nationwide epidemiological study in Germany. Archives Dis Child Fetal & Neonatal Ed. 2015;100(2):F169-72.[adhb.govt.nz]
  • Epidemiology EVC is a rare disease. The exact prevalence remains unknown. About 100 cases have been reported between the first full description of the syndrome in 1940, by R. Ellis and S. Van Crefeld [ 1 ], and 1968 [ 2 ].[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Non-immune hydrops fetalis: A short review of etiology and pathophysiology. Am J Med Genet Part A. 2012;158A:597-605. 2 Steurer MA, Peyvandi S, Baer RJ et al.[adhb.govt.nz]

Prevention

  • Causes - Short rib-polydactyly syndrome- Saldino-Noonan type Other Possible Causes of these Symptoms * Extra fingers * Extra toes * Heart defects * Short ribs * Short stature * Syndactyly Prevention - Short rib-polydactyly syndrome- Saldino-Noonan type[checkorphan.org]
  • 69 الصفحة 62 صفحة العنوان جدول المحتويات المحتويات Quantitation of Morphologic Changes 6 Abnormal Structural Development 12 Available SpaceCompression 18 References 24 Nasopharynx 30 Pathology of Hyaline Membrane Disease and Acute 101 Morphometry 114 Prevention[books.google.com]
  • Noonan syndrome is a gene tic disorder that prevents normal development in various parts of the body.[defineaz.com]
  • 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.[obgyn.mhmedical.com]

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