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Postaxial Oligodactyly, Tetramelic

Postaxial Oligodactyly Tetramelic


Presentation

  • The present family may represent a defect in Hox-4 gene patterning of hand and foot formation, an abnormality in morphogen gradient formation or alternately an inability of the most ulnar rays to respond to morphogen (receptor defect).[ncbi.nlm.nih.gov]
  • ORPHA:2730 Synonym(s): - Prevalence: Inheritance: - Age of onset: Neonatal ICD-10: Q73.8 OMIM: 176240 UMLS: C1867924 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
  • In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia[dysnet.org]
  • Harmon et al. [1995] reported on a fetus of Thai descent, who presented at 20 weeks of gestation with symmetrical terminal transverse limb defects.[updoc.site]
  • Education & Training Certifications & Licensure American Board of Medical Genetics and Genomics Clinical Genetics American Board of Pediatrics Pediatrics Publications & Presentations PubMed 16 citations Speech characteristics in the Kabuki syndrome.[doximity.com]
Single Transverse Palmar Crease
  • transverse palmar creases partial-complete absence of 5th phalanges absent 5th metacarpal lunate-triquetral fusion Clinical features from OMIM: 176240 Human phenotypes related to Postaxial Oligodactyly, Tetramelic: 59 32 (show all 14) # Description HPO[malacards.org]
  • Diseases related with Arthritis and Single transverse palmar crease In the following list you will find some of the most common rare diseases related to Arthritis and Single transverse palmar crease that can help you solving undiagnosed cases.[mendelian.co]
Single Transverse Palmar Crease
  • transverse palmar creases partial-complete absence of 5th phalanges absent 5th metacarpal lunate-triquetral fusion Clinical features from OMIM: 176240 Human phenotypes related to Postaxial Oligodactyly, Tetramelic: 59 32 (show all 14) # Description HPO[malacards.org]
  • Diseases related with Arthritis and Single transverse palmar crease In the following list you will find some of the most common rare diseases related to Arthritis and Single transverse palmar crease that can help you solving undiagnosed cases.[mendelian.co]

Treatment

  • 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]
  • The prosthetic treatment of upper limb deficiency. Prosthetics and Orthotics International, 15 , 82–87. PubMed Google Scholar Frantz, C. H., & O’Rahilly, R. (1961). Congenital skeletal limb deficiencies.[link.springer.com]
  • Orthopedic treatment aims at correcting the leg length discrepancy, and, in bilateral cases, correcting the asymmetrical dwarfism.[dysnet.org]
  • With the experience gained by the prenatal diagnosis and treatment of fetal anemia due to red blood cell isoimmunization, infection with parvovirus B19, and fetal alloimmune thrombocytopenia, intrauterine treatment of fetuses homozygous for a-thalassemia[updoc.site]
  • Burgess Principal Investigator Melissa Sasara instrument Time Frame Up to year Frequency of curative surgery unresectable lesion becomes Progression free survival From start treatment or death whichever occurs first assessed years Overall Incidence adverse[borghesan.com]

Prognosis

  • In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia[dysnet.org]
  • ., 1992], which suggested that intrauterine blood transfusion might improve their prognosis and avoid intrauterine death.[updoc.site]

Etiology

  • The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation.[dysnet.org]
  • The etiology of LSS is unknown. Different modes of inheritance have been suggested.[mendelian.co]
  • Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet A 2011;155A(6):1225–35. 7. Prosthetics and orthotics - Limb deficiencies - Part 1: Method of describing limb deficiencies present at birth. ISO 8548–1:1989.[docksci.com]

Prevention

  • Fucharoen S, Winichagoon P (1992): Thalassemia in Soust East Asia: problems and strategy for prevention and control. Southeast Asian Tropic Med Publ Hlth 23:647–655.[updoc.site]
  • Initial calculations were made assuming that II-8 and II-9 were not consanguineous, in order to prevent the lower location scores that would have been obtained because of the limited density and informability of the marker grid in the genome-wide marker[jmg.bmj.com]

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