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1,249 Possible Causes for Hair Hypoplasia

  • Cartilage Hair Hypoplasia

    Cartilage hair hypoplasia is a rare multisystemic genetic disorder demarcated by a short stature from birth, hypoplastic hair, various skeletal abnormalities and a variable[] Abstract Cartilage-hair hypoplasia is an osteochondrodysplasia with short-limbed short stature.[] Kaitila I, Perheentupa J (1980) Cartilage-hair hypoplasia.[]

  • Anauxetic Dysplasia

    This clinical spectrum includes different degrees of short stature, hair hypoplasia, defective erythrogenesis, and immunodeficiency.[] Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal[] To our knowledge, however, such findings have not been described in cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders (CHH-AD), a group of conditions characterized[]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Cartilage-Hair-Hypoplasia is a rare form of metaphyseal chondrodystrophia.[] hypoplasia, 250250 (3); Metaphyseal dysplasia without hypotrichosis, 250460 (3); Anauxetic dysplasia 1, 607095 (3) RMRP Clone No Clone data available for RMRP Gene.[] Clinical and Genetic Distinction of Schimke Immuno-Osseous Dysplasia and Cartilage-Hair Hypoplasia.[]

  • Exostosis

    Pediatr-Hematol-Oncol. 2000 Dec; 17(8): 707-11 Fryns,-J-P Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia[]

  • Pineal Gland Cyst

    hypoplasia; elevated urinary hyaluronic acid; and accelerated atherosclerosis.[] It is manifested by premature greying; hair loss; hearing loss (deafness); cataracts (cataract); arthritis; osteoporosis; diabetes mellitus; atrophy of subcutaneous fat; skeletal[]

  • Lymphopenic Agammaglobulinemia - Short-Limbed Dwarfism Syndrome

    Abstract Two children with cartilage-hair hypoplasia suffered from recurrent respiratory-tract infections and contracted unusually severe varicella.[] Cartilage hair hypoplasia, Chédiak-Higashi syndrome, Griscelli syndrome Ocular telangiectasia Ataxia-telangiectasia Oculocutaneous albinism Chédiak-Higashi syndrome Severe[] II: Cartilage-hair hypoplasia. Bull. Johns Hopkins Hosp. 116 (1965). 285-326. 27. Lux, S. E., et al.[]

  • Metaphyseal Acroscyphodysplasia

    hypoplasia (Metaphyseal widening) Craniometaphyseal dysplasia, autosomal dominant ... ...[] SNOMed Terms: Acroscyphodysplasia Acroscyphodysplasia (disorder) Cartilage hair syndrome Cartilage hair syndrome with associated immunodeficiency Cartilage-hair hypoplasia[] [Australas Radiol. 1995] ReviewCartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.[]

  • Herpes Zoster

    Facetectomies Unknown status NCT00865540 Phase 4 prednisolone acetate 1%;ketorolac tromethamine 0.4%;nepafenac 0.1%;methylcellulose 0.5% 9 Immunodeficiency in Cartilage-hair[] Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Unknown status NCT02383797 Phase 4 10 "Equistasi" and Gait in Hemiparesis Unknown status NCT02714478 Phase[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    These findings led to a clinical diagnosis of cartilage-hair hypoplasia.[] Hypoplasia Like Syndrome cartilage-hair hypoplasia CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA chondrodysplasia[] Part A 2007) 3 22 58 Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.[]

  • Infectious Colitis

    Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH) J. Clin. Virol. 2004; 30 :196–204. [ PubMed ] [ Google Scholar ] 43.[]

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