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844 Possible Causes for Atrophic Nails, Cafe-Au-Lait Spots, Hypermobile Joints

  • Rothmund Thomson Syndrome

    Development of erythema with cafe-au-lait spots and not pokiloderma, slender built, narrow delicate face, prominent nose and high-pitched voice in Bloom's syndrome are essential[idoj.in] , hyperpigmented, telangiectatic cutaneous plaques and often accompanied by juvenile cataracts; saddle nose; congenital bone defects; disturbances in the growth of hair, nails[medical-dictionary.thefreedictionary.com] Acral hypermobile joints. About 40% of adult patients show delayed puberty or hypogonadism.[plasticsurgerykey.com]

  • Legius Syndrome

    Legius syndrome ( LS ) is an autosomal dominant condition characterized by cafe au lait spots. MD, Robert P. Erickson; PhD, Anthony J. Wynshaw-Boris MD (2016).[en.wikipedia.org] Mother's sister and grandfather have some cafe-au-lait spots.[ncbi.nlm.nih.gov] On assessment he was noted to have multiple cafe-au-lait spots 5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother.[pediatricneurology.conferenceseries.com]

    Missing: Atrophic Nails Hypermobile Joints
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Multiple neurofibromas Lisch nodules Optic pathway glioma NF1 - Neurofibromatosis 1 Neurofibromin protein - Chromosome 17, AD Bilateral acoustic neuromas Multiple cafe-au-lait[quizlet.com] joints, blindness/cataracts, MR, hypotonia, rickets oculocerebrorenal syndrome Term Definition hyperplasia of pancreas, anterior pituitary, parathyroid (PPP) Term Definition[flashcardmachine.com] au lait spots -neurofibromas (nerve tumor) -optic glioma -frecklying of axilla or inguinal -iris hamartoma -cortical thinningof long bones, sphenoid dysplasia relatvie with[brainscape.com]

    Missing: Atrophic Nails
  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[medical-dictionary.thefreedictionary.com] Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps.[ncbi.nlm.nih.gov] Neurofibromatosis type I is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin.[flybase.org]

    Missing: Atrophic Nails Hypermobile Joints
  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org] […] shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose changes in skin colour – areas may be darker or lighter than normal cafe-au-lait[medic8.com] spots.[radiopaedia.org]

    Missing: Atrophic Nails Hypermobile Joints
  • Neurofibroma

    Carriers of this autosomal dominant trait are prone to the occurrence of benign and malignant tumors which present with cafe-au-lait spots, fibromatous tumors in the skin[symptoma.com]

    Missing: Atrophic Nails Hypermobile Joints
  • McCune-Albright Syndrome

    McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP).[ncbi.nlm.nih.gov] Paris-Sud, Inserm U693, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. philippe.chanson@bct.aphp.fr Abstract The McCune-Albright syndrome is characterized by cafe-au-lait[ncbi.nlm.nih.gov] au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : 75% abnormal vaginal bleeding: 25% coast of Maine cafe-au-lait spots predominantly on[radiopaedia.org]

    Missing: Atrophic Nails Hypermobile Joints
  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.com] 29% of people have these symptoms Abnormal vagina morphology 0000142 Abnormality of the cardiovascular system Cardiovascular abnormality 0001626 Autistic behavior 0000729 Cafe-au-lait[rarediseases.info.nih.gov] Less commonly observed clinical features include cafe au lait spots, genitourinary anomalies, motor, speech, cognitive delays, and hypoglycemia.[mayomedicallaboratories.com]

    Missing: Atrophic Nails Hypermobile Joints
  • Polyostotic Fibrous Dysplasia

    When melanotic pigmentation (cafe-au-lait spots) and multiple endocrine hyperfunction are additionally associated it is referred to as albright syndrome ICD-9-CM Volume 2[icd9data.com] au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : 75% abnormal vaginal bleeding: 25% coast of Maine cafe-au-lait spots predominantly on[radiopaedia.org] Other symptoms include: Bone fractures Deformities of the bones in the face Gigantism Irregular, large patchy cafe-au-lait spots There is no specific treatment for McCune-Albright[medlineplus.gov]

    Missing: Atrophic Nails Hypermobile Joints
  • Klinefelter Syndrome

    Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin.[ncbi.nlm.nih.gov] Abnormalities of the teeth, nails, hair, eyes, central nervous system, and breast may also be present.[ncbi.nlm.nih.gov] The skin was also abnormal, with atrophic skin plaques and areas of telangiectasia along the lines of Blaschko. The karyotype was 47,XXY (Klinefelter syndrome).[ncbi.nlm.nih.gov]

    Missing: Hypermobile Joints

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