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1,756 Possible Causes for Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones, Prenatal Diagnosis Available

  • Mucopolysaccharidosis

    […] of prenatal diagnosis.[checkorphan.org] Prenatal diagnosis is routinely available by measuring I2S enzymatic activity in amniotic fluid or in chorionic villus tissue.[omicsonline.org] Tests Available GALNS Gene Sequencing Forms and Documents Test Details Clinical Utility: Confirmation of a biochemical diagnosis Carrier testing Prenatal diagnosis in at risk[genedx.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 2

    Prenatal diagnosis is routinely available by measuring I2S enzymatic activity in amniotic fluid or in chorionic villus tissue.[omicsonline.org] If a specific mutation is known to run in the family, prenatal molecular genetic testing can be performed.[en.wikipedia.org] There is also the availability of prenatal diagnosis for all MPS disease to detect affected fetuses.[medical-dictionary.thefreedictionary.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 6

    Tests Available ARSB Gene Sequencing Forms and Documents Test Details Clinical Utility: Confirmation of biochemical diagnosis Carrier testing Prenatal diagnosis in at risk[genedx.com] Prompt diagnosis and early treatment with ERT can profoundly impact the outcome. Sometimes Maroteaux Lamy syndrome can be detected prenatally.[symptoma.com] Genetic counseling is available to affected individuals and their family members. Patient Information What is mucopolysaccharidosis (MPS) type 6?[symptoma.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    Prenatal diagnosis by DNA repair assay on CVS or amniocytes may be available in some countries.[ncbi.nlm.nih.gov] ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] […] increased risk and preimplantation genetic diagnosis are possible.[ncbi.nlm.nih.gov]

  • Turner Syndrome

    No, cases are usually random, and not related to maternal age or behaviour Is a prenatal genetic test available?[bigpictureeducation.com] ., horseshoe kidney, duplicated or cleft renal pelvis), autoimmune thyroiditis, celiac disease, congenital hip dysplasia, and scoliosis. 11 Girls with Turner syndrome typically[aafp.org] […] developmental dysplasia of the hip occurs more frequently in girls with Turner syndrome than in the general population. 52, 57 This contributes to the development of arthritis[doi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hip Dysplasia Type Beukes

    Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy, if available), may help in understanding[dovemed.com] Total hip replacement in congenital dislocation and dysplasia of the hip. The Journal of Bone & Joint Surgery, 61(1), pp.15-23.[citethisforme.com] Some common causes of hip pain include bursitis, sciatica. Congenital hip dysplasia at Make research projects and school reports about Congenital hip dysplasia easy.[juniorvigor.tk]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Ehlers-Danlos Syndrome

    Prenatal diagnosis is available for specific forms of EDS, including kyphosocliosis type and vascular type.[web.archive.org] Developmental dysplasia of the hip (formerly congenital hip dislocation) occurs in 1% (the arthrochalasis type is characterized by bilateral developmental dysplasia of the[msdmanuals.com] In case of positive results further molecular testing is available to identify the disease causing mutation(s) and thus allows offering prenatal diagnosis for future pregnancies[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    Prenatal diagnosis Macrocephaly, large hands, long arms and excessive growth are detectable using ultrasound scanning. Is there support?[cafamily.org.uk] Tests Available NSD1 Gene Sequencing & Del/Dup Syndromic Macrocephaly/Overgrowth Panel Forms and Documents Test Details Clinical Utility: Confirmation of a clinical diagnosis[genedx.com] Carrier and prenatal diagnosis, as well as pre-implantation genetic diagnosis (PGD) in association with IVF (in vitro fertilization), are available to families where the mutation[socialstyrelsen.se]

    Missing: Congenital Hip Dysplasia
  • Congenital Deafness

    diagnosis available for DFNB9 4 December 2006 (rjs) Revision: clinical testing available for DFNB21 and DFNA8/12 22 August 2006 (rjs) Revision: to incorporate concerns of[ncbi.nlm.nih.gov] hip dysplasia Euthyroid goitre Facial nerve paresis Gustatory lacrimation Non-rotation of the gastrointestinal tract Pancreatic duplication cyst Temporoparietal linear naevus[academic.oup.com] Preimplantation genetic diagnosis may be available for families in whom the deafness-causing mutation(s) has/have been identified in a deaf family member.[nature.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Osgood-Schlatter Disease

    Copyright 2015 American Academy of Orthopaedic Surgeons Osgood-Schlatter Disease (Knee Pain) Osgood-Schlatter disease is a common cause of knee pain in growing adolescents. It is an inflammation of the area just below the knee where the tendon from the kneecap (patellar tendon) attaches to the shinbone[…][web.archive.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Prenatal Diagnosis Available