Presentation
In addition, we also present eight novel TBX5 mutations (three nonsense, one splice mutation, four short deletions) as detected by direct sequencing in 21 families not previously analyzed for mutations. [zora.uzh.ch]
A sleep disorder in which there is cessation of breathing during sleep (sleep apnea) may also be present. [rarediseases.org]
Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1997;9(5): 310–3. [obgyn.mhmedical.com]
Polycystic disease of kidneys and liver presenting in childhood. Journal of Medical Genetics 1971, 8, 257 – 284. CrossRef PubMed CAS Google Scholar Böhm N, Fukuda M, Staudt R, Helwig H. [link.springer.com]
Entire Body System
- Anemia
Sickle delta beta thalassemia Siderius X-linked mental retardation syndrome Sideroblastic anemia acquired Sideroblastic anemia and mitochondrial myopathy Sideroblastic anemia pyridoxine-refractory autosomal recessive Sideroblastic anemia pyridoxine-responsive [personalizedcause.com]
Article PubMed PubMed Central Google Scholar Neveling K, Endt D, Hoehn H, Schindler D: Genotype-phenotype correlations in Fanconi anemia. Mutat Res. 2009, 668: 73-91. [genomebiology.biomedcentral.com]
Skin
- Hyperkeratosis
[…] chondromatosis familial with dwarfism Synovial sarcoma Synovitis Synovitis acne pustulosis hyperostosis osteitis Syphilitic aseptic meningitis Syphilitic myelopathy Syringobulbia Syringocystadenoma papilliferum Syringomas natal teeth oligodontia Syringomelia hyperkeratosis [personalizedcause.com]
- Eruptions
Other symptoms found in some patients with Schinzel Giedion syndrome may include a high forehead that protrudes outward, a large tongue (macroglossia), delayed eruption of teeth, a narrow passage between the nose and throat (choanal stenosis), underdeveloped [rarediseases.org]
Musculoskeletal
- Small Head
Symptoms - Spranger Schinzel Myers syndrome * Underdeveloped digits * Small head * Hydrocephaly * Arthrogryposis * Underdeveloped lowest portion of spine (sacrum) * Permanent joint contractures Causes - Spranger Schinzel Myers syndrome Not supplied. [checkorphan.org]
- Brachydactyly
Symphalangism brachydactyly craniosynostosis Symphalangism distal Symphalangism familial proximal Symphalangism short stature accessory testis Symphalangism with multiple anomalies of hands and feet Symphalangism distal with microdontia dental pulp stones [personalizedcause.com]
Treatment
Outpatient treatment clinics for alcoholism and drug addiction, Rehabilitation centers, outpatient (medical treatment), Respiratory therapy clinics. [painhealthcenter.com]
Treatment - Spranger Schinzel Myers syndrome * Mental Health Specialists: o Psychiatry o Addiction Psychiatry o Geriatric Psychiatry o Pediatric / Adolescent Psychiatry (Child/Teen Mental Health) o Pediatric Developmental Behavioral Health (Child Behavior [checkorphan.org]
The definitive treatment for atrial septal defects is surgical. The hole in the septum is either sutured shut, or patched with a graft. The success rate is quite high. [rarediseases.org]
Partial resection and fenestration in the treatment of polycystic liver disease. British Journal of Surgery 1984, 71, 242 – 244. [link.springer.com]
Chiari type I malformation revisited: diagnosis and treatment. Neurologist 2000;8(6):357–62. CrossRef 61. Tonni G, Ventura A. [obgyn.mhmedical.com]
Prognosis
Diagnosis - Spranger Schinzel Myers syndrome Home medical testing related to Spranger-Schinzel-Myers syndrome: * Concentration -- Home Testing * ADHD -- Home Testing * Mental Health: Home Testing: o Home Emotional Stress Tests Prognosis - Spranger Schinzel [checkorphan.org]
Prognosis of adult onset polycystic kidney disease re-evaluated. Kidney International 1984, 26, 190 – 193. CrossRef PubMed CAS Google Scholar Claudy A, Toulon J, Dutoit M, Sabatier J-C and Berthoux F-C. [link.springer.com]
Google Scholar Gelsi-Boyer V, Trouplin V, Roquain J, Adélaíde J, Carbuccia N, Esterni B, Finetti P, Murati A, Arnoulet C, Zerazhi H, Fezoui H, Tadrist Z, Nezri M, Chaffanet M, Mozziconacci MJ, Vey N, Birnbaum D: ASXL1 mutation is associated with poor prognosis [genomebiology.biomedcentral.com]
Etiology
Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004;(424):183–90. 182. Tracy MR, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. [obgyn.mhmedical.com]
Etiology and pathogenesis of PKD characteristics of hepatic cysts. Symposium, Etiology & Pathogenesis of Polycystic Kidney Disease. Sponsored by Baxter and PKF Foundation, Deerfield, IL, 1987. [link.springer.com]
Epidemiology
Epidemiology of adult polycystic kidneys disease, Olmsted County, Minnesota: 1935–1980. American Journal of Kidney Diseases 1983, 2, 630 – 639. PubMed CAS Google Scholar Kaehny W, Bell P, Earnest M, Stears J and Gabow P. [link.springer.com]
Prevention
Prevention - Spranger Schinzel Myers syndrome Not supplied. [checkorphan.org]
Atlanta, GA: Centers for Disease Control and Prevention, 2004 120. Strömland K, Mattson, SN, Adnams CM, Autti-Rämö I, Riley EP, Warren KR. [obgyn.mhmedical.com]
Anti-convulsant drugs such as carbamazepine, valproic acid, phenobarbital, clonazepam, ethusuximide, primidone, phenytoin, corticotropin, and corticosteroid drugs are being used to help prevent and control seizures associated with Epilepsy. [rarediseases.org]
Article PubMed Google Scholar Stellmach V, Crawford SE, Zhou W, Bouck N: Prevention of ischemia-induced retinopathy by the natural ocular antiangiogenic agent pigment epithelium-derived factor. [genomebiology.biomedcentral.com]