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223 Possible Causes for Hypoplastic Testicle, MRI Scan showing White Matter Lesions, Prominent High Nasal Root

  • 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]

  • 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: MRI Scan showing White Matter Lesions
  • Renpenning Syndrome

    He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

    Missing: MRI Scan showing White Matter Lesions
  • Fabry Disease

    Enzyme replacement therapy (ERT) for Fabry disease does not show a clear benefit in angiokeratoma. We describe two Japanese siblings with Fabry disease, who were diagnosed when angiokeratomas were found on the older sibling at the age of 13 years. Neither of the boys complained of pain, while both suffered from[…][ncbi.nlm.nih.gov]

    Missing: Hypoplastic Testicle Prominent High Nasal Root
  • Lyme Meningoencephalitis

    Although Lyme disease frequently attacks the central nervous system, this involvement is rarely severe, and high-dose intravenous penicillin usually is adequate treatment. The patient we describe developed severe Lyme meningoencephalitis despite receiving a full course of penicillin, and his condition continued to[…][ncbi.nlm.nih.gov]

    Missing: Hypoplastic Testicle Prominent High Nasal Root
  • Leigh's Disease

    A 5-month-old male infant was referred to us for evaluation of progressive hypotonia. He had growth retardation, feeding difficulty and general weakness. Brain sonography and computed tomography demonstrated symmetrical lesions in the caudate, lenticular nuclei, thalamus and hypothalamus, suggesting bilateral[…][ncbi.nlm.nih.gov]

    Missing: Hypoplastic Testicle Prominent High Nasal Root
  • Alexander Disease

    Alexander disease (AxD), a fatal degenerative leukoencephalopathy, is caused by de novo heterozygous missense mutations in the Glial Fibrillary Acidic Protein (GFAP) gene. The pathological hallmark of the disease is the presence of Rosenthal fibers, cytoplasmic inclusions in astrocytes, composed mainly of GFAP,[…][ncbi.nlm.nih.gov]

    Missing: Hypoplastic Testicle Prominent High Nasal Root
  • Hypogonadotropic Hypogonadism Type 22

    Etiology Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575 Gonçalves CI, Fonseca F, Borges T, Cunha F, Lemos MC Hum Reprod 2017 Mar 1;32(3):704-711. doi: 10.1093/humrep/dew354. PMID: 28122887 Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R,[…][ncbi.nlm.nih.gov]

    Missing: MRI Scan showing White Matter Lesions 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: MRI Scan showing White Matter Lesions 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: MRI Scan showing White Matter Lesions Prominent High Nasal Root