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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[ncbi.nlm.nih.gov] 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] Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse[ncbi.nlm.nih.gov]

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

  • Goldberg-Shprintzen Syndrome

    hair), cleft palate and iris coloboma.[humpath.com] […] contractures Camptodactyly (palce) Hip contractures Adducted thumbs Club foot may occur Kyphosis/scoliosis Cca half of all affected In infancy and is progressive Muscular[medicinman.cz] 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[diseaseinfosearch.org]

    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[mousephenotype.org] hair.[hal.archives-ouvertes.fr] 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[neo-genetics.com]

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

    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.[malacards.org] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[orpha.net] 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[disgenet.org]

    Missing: Absent Pulp Chambers
  • Weaver Syndrome

    Tall, broad, prominent forehead, sparse hair in frontotemporal region.[genetics4medics.com] Broad thumbs Wide/broad thumb [ more ] 0011304 Camptodactyly of finger Permanent flexion of the finger 0100490 Deep philtrum 0002002 Feeding difficulties in infancy 0008872[rarediseases.info.nih.gov] ., macrocephaly, prominent jaw, and a high hairline with sparse hair growth), advanced bone age, and developmental delay (Cole and Hughes 1994 ).[ncbi.nlm.nih.gov]

    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.[mendelian.co] (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[quizlet.com] Pulmonary hypoplasia Renal cyst Abnormality of the kidney Microtia Neurological speech impairment Low-set, posteriorly rotated ears Gingival overgrowth Proximal placement of thumb[mendelian.co]

  • 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.[orpha.net] […] and palm of hand, arachnodactyly, flexion contractures of elbow and knee.[ajol.info] Dermatologic changes includene, sparse hair and thin eyebrows. The skin is dry andin infants mottling is frequently seen on the limbs.[documents.tips]

    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[doi.org] The thumbs are usually of normal appearance, but held in a position of metacarpophalangeal flexion. Abdomen - pancreatic cysts, Meckel's diverticulum.[patient.info] He had sparse hair with areas of alopecia, sparse eyebrows, a prominent forehead, slender nose, highly arched palate, and micrognathia.[jamanetwork.com]

    Missing: Absent Pulp Chambers

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