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218 Possible Causes for CD27+ B Cells Decreased, Desbuquois Dysplasia, Dry, Brittle Hair

  • Rapp-Hodgkin Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[] The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla[] The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin.[] Very little hair -- on both head and face -- and dry or brittle hair.[]

    Missing: CD27+ B Cells Decreased
  • Bjornstad Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[] Abnormalities of hair (alopecia, or coarse, dry, lusterless, fragile hair) are present and mainly of cosmetic concern.[] Pili torti (denoting the twisting of hair around their axis) is a term used to illustrate the appearance of short and brittle hair (without any pigment) that occurs as a result[] Individuals with this disorder may usually have dry, fragile, lusterless, and/or coarse scalp hair.[]

    Missing: CD27+ B Cells Decreased
  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[] Abnormalities affecting the skin including ichthyosis, dry skin, erythroderma and atopic dermatitis may also occur. Some individuals have developed cerebellar ataxia.[] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[] Keywords: Bone marrow failure / Congenital Disorder of Glycosylation / Pgm3 / Severe combined immunodeficiency / whole‐exome sequencing / DESBUQUOIS‐LIKE DYSPLASIA Click here[]

    Missing: Brittle Hair
  • Oculo-Osteo-Cutaneous Syndrome

    dysplasia diastrophic dysplasia Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities Dilated Cardiomyopathy[] Dry eye is more common as people get older, especially for women.[] […] and nerve deafness 262000 Bloch-Sulzberger syndrome Incontinentia pigmenti 308300 Brachymetapody-anodontia hypotrichosis-albinoidism Oculo-osteocutaneous syndrome 211370 Brittle[] Stature Syndrome Deafness-Intellectual Disability Syndrome, Martin-Probst Type Desbuquois Dysplasia 1 Developmental And Speech Delay Due To SOX5 Deficiency Distal Limb Deficiencies-Micrognathia[]

    Missing: CD27+ B Cells Decreased
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial[] We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic[] The physical examination revealed sparse, fine and brittle hair, shortened limbs, moderate varus bowing of the femurs, and short fingers.[] Hemivertebrae Vertebral fusion Abnormality of the neck Vertebral wedging Lipodystrophy Palmar pits Plantar pits High palate Proteinuria Hypoglycemia Small for gestational age Dry[]

    Missing: CD27+ B Cells Decreased
  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[] Certain products may require to ship with dry ice and additional dry ice fee may apply. BAPX1 peptide is used for blocking the activity of BAPX1 antibody.[] Congenital malformation H00866 Trichothiodystrophy Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis[] Keratoconus Sorsby fundus dystrophy Meesmann corneal dystrophy Primary open angle glaucoma Familial exudative vitreoretinopathy (FEVR) Congenital stationary night blindness (CSNB) Dry[]

    Missing: CD27+ B Cells Decreased
  • Dappled Diaphyseal Dysplasia

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[] . – dashing beauty dazzling : shining intensely – dazzling night gown Shortest Adjectives dim : lacking in light – dim light dry :free from moisture or liquid; not wet or[] […] shaft showing disruption: electronmicroscopic appearance, 586 light and dark bands of, 586 signs and symptoms associated with, 587 sparse, brittle, coarse hair, 586 tricuspid[] Dyssegmental dysplasia groupDyssegmental dysplasiaSilverman-Handmaker typeAR Dyssegmental dysplasiaRolland-Desbuquois typeAR 8.[]

    Missing: CD27+ B Cells Decreased
  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[] A procedure for isolation and characterization of proteoglycans and glycosaminoglycans from dry cartilage in amounts down to 1 mg is described.[] hair Excessive joint laxity Ankle deformity secondary to unusual length of fibula (hind-foot in varus, mid-foot and forefoot in valgus) Dwarfing may be marked and the epiphyses[] Female Clinical Features Wasting of muscles and weakness Delays in walking or running presentation Also pain or weakness of affected limbs Delayed puberty and hypo-gonadism, dry[]

    Missing: CD27+ B Cells Decreased
  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[] Certain products may require to ship with dry ice and additional dry ice fee may apply.[] OMIM ID Human Disease OMIM:211390 Sabinas Brittle Hair Syndrome OMIM:268700 Saccharopinuria OMIM:615709 Sacral Agenesis with Vertebral Anomalies; SAVA OMIM:600145 Sacral Defect[] The UDP-Rha and UDP-Gal contents are in the range of 40–120 pmol mg 1 of dry weight and 130–400 pmol mg 1 of dry weight, respectively ( Table S3 ).[]

    Missing: CD27+ B Cells Decreased
  • Hypohidrotic Ectodermal Dysplasia

    dysplasia Desbuquois syndrome Desmin-related myofibrillar myopathy Desmin-related myopathy with Mallory body-like inclusions Desminopathy Desmoid tumor Desmoid type fibromatosis[] […] symptoms of Amelo-Onycho-Hypohidrotic Syndrome include discolored teeth, abnormal enamel, under-developed nails, separation of nails from nail bed, reduced sweating and dry[] Hair Syndrome Sackey Sakati Aur Syndrome Sacral Agenesis Syndrome Saito Kuba Tsuruta Syndrome Sakati-Nyhan syndrome Salcedo Syndrome salt and pepper syndrome Sammartino De[] […] yellow-brown discoloration of the teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006286 8 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684 9 dry[]

    Missing: CD27+ B Cells Decreased

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