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2,080 Possible Causes for Absent Pulp Chambers, Genu Valgum, Sparse Hair

  • Homocystinuria

    Symptoms of homocystinuria include mental retardation; displacement of the lenses of the eyes; shuffling gait; fine, sparse hair; skeletal deformations; and sometimes fatal[britannica.com] Skeletal changes include genu valgum and pes cavus, followed by dolichostenomelia, pectus excavatum or carinatum and kyphosis, or scoliosis and osteoporosis.[orpha.net] The hereditary form features sparse blond hair, OSTEOPOROSIS with overgrowth of long bones, a hollowed chest, dislocation of the lenses of the eyes and mental retardation.[medical-dictionary.thefreedictionary.com]

    Missing: Absent Pulp Chambers
  • Taurodontia Absent Teeth Sparse Hair

    Treatment - Taurodontia absent teeth sparse hair Not supplied. Resources - Taurodontia absent teeth sparse hair Not supplied.[checkorphan.org] valgum syndrome Oculocerebral hypopigmentation syndrome, Cross type Oculodental syndrome, Rutherfurd type Oculodentodigital dysplasia Oculofaciocardiodental syndrome Oculootodental[se-atlas.de] […] disease T-cell lymphoma Te-Th Teebi Kaurah syndrome Teebi Naguib Alawadi syndrome Teebi Shaltout syndrome Teebi syndrome Teeth noneruption of with maxillary hypoplasia and genu[bioreference.net]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. Clin. Dysmorph. 3: 309-317, 1994.[omim.org] valgum Limitation of joint mobility Macroorchidism Strabismus Hypotelorism Abnormality of the abdominal wall Abnormality of the thyroid gland Prematurely aged appearance[mendelian.co] Flared wide portion of long bone of upper arm 0003911 Flared iliac wings 0002869 Genu varum Outward bow-leggedness Outward bowing at knees [ more ] 0002970 Hypotrichosis Sparse[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers
  • Ellis-Van Creveld Syndrome

    Other characteristic features such as small and dysplastic nails, sparse hair and abnormalities of the teeth were, of course, not yet present in this early developmental stage[ncbi.nlm.nih.gov] Clinical features were: a marked acromesomelic short stature (135 cm height), narrow thorax, genu valgum, club feet, brachydactyly, malposed toes, hypoplastic nails and teeth[ncbi.nlm.nih.gov] The patients have small stature, short limbs, fine sparse hair and hypoplastic fingernails.[omicsonline.org]

    Missing: Absent Pulp Chambers
  • Schwartz-Lelek Syndrome

    Additional findings include skin atrophy (most prominent over the nose and sutural areas of the scalp), thin sparse hair, mi-crophthalmia, cataract, strabismus, narrow and[rrnursingschool.biz] Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles.[en.wikipedia.org] Affected people are clinically normal, apart from genu valgum , although scoliosis and bone fragility occasionally occur.[merckmanuals.com]

    Missing: Absent Pulp Chambers
  • Rothmund Thomson Syndrome

    It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[ncbi.nlm.nih.gov] The knees commonly show genu valgum and occasionally subluxation.[plasticsurgerykey.com] The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective[ncbi.nlm.nih.gov]

    Missing: Absent Pulp Chambers
  • Oculo-Osteo-Cutaneous Syndrome

    15 absent pubic hair 32 HP:0002555 16 hypoplastic nipples 32 HP:0002557 17 short stature 32 HP:0004322 18 opacification of the corneal stroma 32 HP:0007759 19 sparse hair[malacards.org] Cases 631 Non-acquired isolated growth hormone deficiency 0.39 P 2337 Non-epidermolytic palmoplantar keratoderma 2.5 P * 2972 Non-eruption of teeth- maxillary hypoplasia-genu[azkurs.org] valgum Pectus carinatum Telecanthus Oxycephaly Congenital onset Encephalopathy Macrocephaly Postductal coarctation of the aorta Ectropion Sparse eyebrow Reduced factor XIII[mendelian.co]

    Missing: Absent Pulp Chambers
  • Cooley's Anemia

    Boys:  no or sparse facial and body hair  tend to have decreased libido, even if sperm production does occur. 8.  Approximately 25 percent of children and adults, regardless[de.slideshare.net] In uncomplicated cases, skeletal deformities include genu valgum, frontal bossing, malar bone prominence, depression of the nasal bridge, and maxillae hypertrophy.[symptoma.com] Untreated or poorly transfused patients show growth retardation, pallor, jaundice, poor musculature, genu valgum, leg ulcers, formation of masses due to extramedullary hematopoiesis[orpha.net]

    Missing: Absent Pulp Chambers
  • Pseudoachondroplasia

    The hair may be sparse or absent in patches. It can be difficult to differentiate the various forms of this condition.[rgauk.org] Legs are malaligned with a variety of knee deformities noted, including bow-legs (genu varum), knock-knees (genu valgum), and windswept deformities (bow-leg on one side and[web.archive.org] […] varum, genu valgum, or genu recurvatum underwent surgical correction.[appliedradiology.com]

    Missing: Absent Pulp Chambers
  • Thoracomelic Dysplasia

    hair syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint[se-atlas.de] valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857 11 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042 12 hyperlordosis 59 32 hallmark[malacards.org] Hair OMIM:273000 Teeth, Fused OMIM:273050 Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum OMIM:187000 Teeth, Odd Shapes of OMIM:187050 Teeth Present at Birth[informatics.jax.org]

    Missing: Absent Pulp Chambers

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