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14 Possible Causes for Possible Genetic Heterogeneity, Sloping Shoulders

  • Craniofrontonasal Dysplasia

    shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders[familydiagnosis.com] shoulders (sometimes associated with restricted movement); and in a small number of cases, mild learning difficulties, cleft lip, cleft palate and extra thumbs or big toes[headlines.org.uk]

  • Scoliosis

    ", that is an inclination of the entire brace above the apical vertebra of the thoracic curve opposite to the proximal slope, together with an advancement of the shoulder[scoliosisjournal.com] The variable severity in these two families suggests a possible intra-familial genetic heterogeneity.[doi.org] One main point to be carefully considered is the correction of high thoracic slopes above the T5 vertebra.[scoliosisjournal.com]

  • Hydroureter

    Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated[ncbi.nlm.nih.gov] For a discussion of genetic heterogeneity of CAKUT, see 610805.[ncbi.nlm.nih.gov] These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015).[ncbi.nlm.nih.gov]

  • Zebra Body Myopathy

    shoulders Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Peroneal muscle atrophy Lipodystrophy[mendelian.co] Because of the genetic heterogeneity, and particularly the difficulty of screening NEB, full screening of all known nemaline myopathy genes has historically not been possible[doi.org] Obstructive sleep apnea Hyperhidrosis Micrognathia Onset Stridor Feeding difficulties in infancy Neonatal hypotonia Joint laxity Urinary urgency Sleep apnea Protruding ear Down-sloping[mendelian.co]

  • Cap Myopathy

    shoulders Abnormality of the clavicle Atrioventricular block Abnormality of the humerus Abnormal aortic morphology Anomalous pulmonary venous return Aortic root aneurysm[mendelian.co] Because of the genetic heterogeneity, and particularly the difficulty of screening NEB , full screening of all known nemaline myopathy genes has historically not been possible[nature.com] […] fibrillation Spasticity Kyphoscoliosis Sprengel anomaly Hypoplastic left heart Pes valgus Thoracic scoliosis Atrioventricular canal defect Aplasia/Hypoplasia of the radius Down-sloping[mendelian.co]

  • Autosomal Recessive Spastic Paraplegia Type 20

    Patients with rounded shoulders (a down-sloping acromial angle), poor muscular development • CAUSE occupations that require repetitive work at or above the shoulder are at[quizlet.com] It is possible, therefore, that these cerebral pathological features are a direct result of the expression of the abnormal SPG4 gene product. 40 Genetics The clinical heterogeneity[jnnp.bmj.com] Atrophy of the muscles around the top and back of the shoulder may be apparent if symptoms are longstanding.[quizlet.com]

  • Trisomy 8q

    shoulders * Narrow pelvis Causes - Chromosome 8- trisomy 8q Not supplied.[checkorphan.org] Genes (possibly) involved are unknown.[atlasgeneticsoncology.org] […] defects * Kidney abnormalities * Hydronephrosis * Undescended testes * Small penis * Small scrotum * Growth retardation * Mental retardation * Long trunk * Narrow trunk * Sloping[checkorphan.org]

  • Familial Pseudohyperkalemia

    ; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature[mendelian.co] The genetic bases of the Rh deficiency syndrome are heterogeneous, and at least two groups can be defined.[medtextfree.wordpress.com] , (ii) FP Chiswick and Falkirk, 9 in which the curve is shouldered and (iii) FP Cardiff, 10 in which the temperature dependence of the leak shows a ‘U-shaped’ profile with[nature.com]

  • Hereditary Cryohydrocytosis with Reduced Stomatin

    'shoulder' pattern (familial pseudohyperkalaemia Chiswick) show pseudohyperkalaemia, because, as the cell is cooled to room temperature, there is a disparity between the[the-medical-dictionary.com] The genetic bases of the Rh deficiency syndrome are heterogeneous, and at least two groups can be defined.[medtextfree.wordpress.com] In others, in which the temperature profile shows either a shallow slope' variant (familial pseudohyperkalaemia Edinburgh, HSt Blackburn), or U-shaped (cryohydrocytosis) or[the-medical-dictionary.com]

  • Dehydrated Hereditary Stomatocytosis

    ; (2) pseudohyperkalemia Chiswick or Falkirk (see 609153), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see 609153), in which the temperature dependence[malacards.org] The genetic bases of the Rh deficiency syndrome are heterogeneous, and at least two groups can be defined.[medtextfree.wordpress.com] […] hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope[malacards.org]

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