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2,035 Possible Causes for Absent Pulp Chambers, Flexion of Thumbs, Sparse Hair

  • 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[] The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective[] Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse[]

    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.[] […] contracture Short long bone Elbow flexion contracture Heterotopia Short thumb Pachygyria Hypsarrhythmia Cerebellar vermis hypoplasia Oligohydramnios Corneal opacity Renal[] Radiographs show the extent of the invagination chamber. Enamel, which may be extremely thin or even absent, can be seen lining this chamber.[]

  • Goldberg-Shprintzen Syndrome

    hair), cleft palate and iris coloboma.[] […] contractures Camptodactyly (palce) Hip contractures Adducted thumbs Club foot may occur Kyphosis/scoliosis Cca half of all affected In infancy and is progressive Muscular[] One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias[]

    Missing: Absent Pulp Chambers
  • Renpenning Syndrome 1

    hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal[] hair.[] Syndrome R(15) Syndrome R(17) Syndrome R(18) Syndrome R(19) Syndrome R(20) Syndrome R(4) Syndrome R(6) Syndrome R(7) Syndrome Radial Ray Defects-Triangular Face-Telecanthus-Sparse[]

    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[] Hip contracture Absent thumb Proximal placement of thumb Short femoral neck Melanoma Clitoral hypertrophy Polycystic kidney dysplasia Prominent occiput Rickets Progressive[] Sparse hair MedGen UID: 332942 • Concept ID: C1837770 • Finding Reduced density of hairs.[]

    Missing: Absent Pulp Chambers
  • Gorlin-Chaudhry-Moss Syndrome

    […] pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis.[] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[] hair Thin, sparse hair phenotype Sign or Symptom 95 0.100 0 CUI: C1857657 Disease: Reduced subcutaneous adipose tissue Reduced subcutaneous adipose tissue phenotype Finding[]

    Missing: Absent Pulp Chambers
  • Weaver Syndrome

    Tall, broad, prominent forehead, sparse hair in frontotemporal region.[] Broad thumbs Wide/broad thumb [ more ] 0011304 Camptodactyly of finger Permanent flexion of the finger 0100490 Deep philtrum 0002002 Feeding difficulties in infancy 0008872[] ., macrocephaly, prominent jaw, and a high hairline with sparse hair growth), advanced bone age, and developmental delay (Cole and Hughes 1994 ).[]

    Missing: Absent Pulp Chambers
  • Autosomal Dominant Prognathism

    Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat.[] (short stature) oral manifestation: large pulp chambers, large pulp horns, cracks in dentin all the way to DEJ that may allow bacteria to get in and cause pulpal infections[] Pulmonary hypoplasia Renal cyst Abnormality of the kidney Microtia Neurological speech impairment Low-set, posteriorly rotated ears Gingival overgrowth Proximal placement of thumb[]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Sparse hair and eyebrows, dry skin, short limbs and dislocation of the hips and elbows are other common features.[] […] and palm of hand, arachnodactyly, flexion contractures of elbow and knee.[] Dermatologic changes includene, sparse hair and thin eyebrows. The skin is dry andin infants mottling is frequently seen on the limbs.[]

    Missing: Absent Pulp Chambers
  • RAPADILINO Syndrome

    Kiyoshi Imaizumi and Yoshikazu Kuroki, Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation, American Journal of Medical Genetics[] The thumbs are usually of normal appearance, but held in a position of metacarpophalangeal flexion. Abdomen - pancreatic cysts, Meckel's diverticulum.[] He had sparse hair with areas of alopecia, sparse eyebrows, a prominent forehead, slender nose, highly arched palate, and micrognathia.[]

    Missing: Absent Pulp Chambers

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