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461 Possible Causes for Distal Limb Contractures, Hypoplastic Testicle, Prominent High Nasal Root

  • Warburg Micro Syndrome 3

    NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism NDE1 Lissencephaly[genda.com.ar] […] syndrome MYH2 Inclusion body myopathy MYH3 Arthrogryposis NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration[genda.com.ar] […] syndrome MYH2 Inclusion body myopathy MYH3 Arthrogryposis MYH7 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage[genda.com.ar]

    Missing: Prominent High Nasal Root
  • Renpenning Syndrome

    NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism NDE1 Lissencephaly[genda.com.ar] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] […] syndrome MYH2 Inclusion body myopathy MYH3 Arthrogryposis NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration[genda.com.ar]

  • Woodhouse Sakati Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Prominent[rarediseases.info.nih.gov] […] forehead, flattened occiput, triangular face, prominent nasal root, hypertelorism, downward slanting palpebral fissures), scoliosis, hyperreflexia and camptodactyly.[sites.uclouvain.be] […] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.[rarediseases.info.nih.gov]

    Missing: Distal Limb Contractures
  • Schwartz-Jampel Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent[rarediseases.info.nih.gov]

    Missing: Distal Limb Contractures
  • Hypogonadotropic Hypogonadism Type 22

    1. Boehm U, Bouloux PM, Dattani MT, de Roux N, Dode C, et al. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 2015;11:547–64. Web of Science PubMed Google Scholar 2. Albuisson J, Pecheux C, Carel JC,[…][degruyter.com]

    Missing: Distal Limb Contractures Prominent High Nasal Root
  • Kallmann Syndrome Type 4

    […] doi: 10.1097/01.XHA.0000479441.49042.58 Review articles Abstract Author Information Authors Article Metrics Metrics Delayed, failed, or arrested puberty is the consequence of hypogonadism among adolescent boys. A variety of congenital and acquired conditions that affect the hypothalamus and/or the pituitary gland[…][journals.lww.com]

    Missing: Distal Limb Contractures Prominent High Nasal Root
  • Hypogonadotropic Hypogonadism Type 8

    OMIM : 57 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic[…][malacards.org]

    Missing: Distal Limb Contractures Prominent High Nasal Root
  • Brandt Syndrome

    From Wikidata Jump to navigation Jump to search Human disease Acrodermatitis enteropathica, zinc deficiency type Acrodermatitis enteropathica zinc deficiency type Inherited zinc deficiency Danbolt-Cross syndrome ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ Brandt syndrome AE ACRODERMATITIS[…][wikidata.org]

    Missing: Distal Limb Contractures Prominent High Nasal Root
  • Moebius Syndrome

    Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case[…][ncbi.nlm.nih.gov]

    Missing: Distal Limb Contractures Prominent High Nasal Root
  • Factor XIII Deficiency

    We describe a patient diagnosed in the neonatal period as having factor XIII deficiency who presented with persistent umbilical bleeding. Factor XIII deficiency is the only coagulation factor deficiency that cannot be detected by classical hemostatic tests, and a rapid diagnosis is vital during the first decade of life.[…][ncbi.nlm.nih.gov]

    Missing: Distal Limb Contractures Prominent High Nasal Root