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383 Possible Causes for Congenital Pain Insensitivity, Nail Abnormality

  • Hereditary Sensory Neuropathy

    See Congenital Insensitivity to Pain Overview.[ncbi.nlm.nih.gov] […] and hair abnormalities and presence of normal sweat glands on skin biopsy exclude the anhidrotic ectodermal dysplasia.[ijpd.in] From Wikidata Jump to navigation Jump to search congenital disorder of nervous system Hereditary sensory and autonomic neuropathy (disorder) congenital insensitivity to pain[wikidata.org]

  • Neuropathy

    Familial dysautonomia (FD)/Riley Day III AR 9q31 IKBKAP Congenital insensitivity to pain with anhidrosis (CIPA) IV AR 1q21-22 NTRK1 (TRKA) Congenital insensitivity to pain[ncbi.nlm.nih.gov] Congenital insensitivity to pain with anhidrosis: an NGF/TrkA-ralated disorder.[ncbi.nlm.nih.gov] Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis.[ncbi.nlm.nih.gov]

  • Hidrotic Ectodermal Dysplasia

    insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[en.wikipedia.org] Early signs and symptoms generally begin in infancy and may include nail abnormalities and sparse scalp hair that is wiry, brittle, patchy and pale.[rarediseases.info.nih.gov] Symptoms to look for in individuals include abnormal nails and sparse hair.[nfed.org]

  • Epidermolysis Bullosa

    insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[en.wikipedia.org] In less severe forms of junctional EB, skin fragility is accompanied by dental enamel defects, nail abnormality and loss, and sometimes sparse hair. What are the causes?[cafamily.org.uk] Nail abnormalities along with multiple cutaneous bullae and erosions were a prominent early physical finding in this cohort, with 6 of 10 patients overall developing nail[jamanetwork.com]

  • POEMS Syndrome

    先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis 無痛無汗症 1 不要 HPS1076 HPS1077 Congenital insensitivity to pain with anhidrosis (CIPA), unknown genetic etiology 先天性無痛無汗症[cell.brc.riken.jp] Various and extensive endocrine disorders may be found causing hypogonadism, thyroid abnormalities, adrenal insufficiency, and/or erectile dysfunction and gynecomastia in[orpha.net] ), flushing, and/or white nails. [3] Papilledema: Papilledema (swelling of retinal optical discs ) occurs in 29% to 64% of cases.[en.wikipedia.org]

  • Autosomal-Recessive Robinow Syndrome

    insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[en.wikipedia.org] ) nails and/or abnormalities of the skin ridge patterns (dermatoglyphics) on the fingers and palms.[rarediseases.org] Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital[en.wikipedia.org]

  • Simpson Dysmorphia Syndrome

    […] disability-spastic quadriplegia syndrome Congenital insensitivity to pain with hyperhidrosis Congenital intrauterine infection-like syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean[se-atlas.de] […] hernia, cryptorchidism, nail dysplasia, abnormal dermatoglyphics, and sometimes mental retardation.[whonamedit.com] Dermatoglyphics Spine Vertebral Abnormalities And Scoliosis Skin Appendages Nail Dysplasia Of The Index Fingers Urogenital System Cryptorchidism Growth And Development Mental[neo-genetics.com]

  • Ichthyosis and Male Hypogonadism

    insensitivity to pain * Instability mitotic non disjunction syndrome * Insulinoma * Insulin-resistance type B * Insulin-resistant acanthosis nigricans, type A Int * Intercellular[en.academic.ru] abnormalities Small testes High blood sugar Diabetes mellitus Note that Ichthyosis and male hypogonadism symptoms usually refers to various symptoms known to a patient, but[checkorphan.org] Flexures were affected, but the palms, soles, hairs and nails were spared. An X-linked ichthyosis (XLI) was suspected.[medicaljournals.se]

  • Curry Hall Syndrome

    […] erythroderma and limb defects congenital insensitivity to pain see hereditary sensory and autonomic neuropathy type V congenital insensitivity to pain with anhidrosis Congenital[herenciageneticayenfermedad.blogspot.com] Overview Curry-Hall syndrome (medical condition): A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.[checkorphan.org] Small nail MedGen UID: 537942 • Concept ID: C0263523 • Finding Nail dysplasia MedGen UID: 331737 • Concept ID: C1834405 • Congenital Abnormality The presence of developmental[ncbi.nlm.nih.gov]

  • Hereditary Koilonychia

    […] muscle spasms - See Dwarfism familial with muscle spasms Familial dysautonomia Familial dysautonomia, type 2 - See Congenital insensitivity to pain with anhidrosis Familial[herenciageneticayenfermedad.blogspot.com] "Nail Abnormalities: Clues to Systemic Disease." Am Family Physician 69.6 Mar. 15, 2004: 1417-1424. Medically Reviewed by a Doctor on 3/30/2017 Next Article[medicinenet.com] (Medical Encyclopedia) Nail abnormalities (Medical Encyclopedia) Nail injuries (Medical Encyclopedia) Paronychia (Medical Encyclopedia) Splinter hemorrhages (Medical Encyclopedia[icdlist.com]

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