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1,130 Possible Causes for Delayed Dentition, Disharmonic Maturation of Phalanges and Carpal Bones, Mostly Sporadic

  • Facial Hemiatrophy

    - A dictionary of medical eponyms Related people Caleb Hillier Parry Moritz Heinrich Romberg A rare disorder characterized by progressive atrophy of some or all tissues on one side of the face, occasionally extending to other parts of the body. The process may be bilateral in 5% to 10% of cases. Tissues involved[…][whonamedit.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    Abstract We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that[…][doi.org]

    Missing: Delayed Dentition
  • Cleidocranial Dysplasia

    Diagnosis is mostly made on the basis of clinical and radiographic features.[jocr.co.in] dentition No mental retardation Imaging Findings Skull Wormian bones Intersutural bones, especially seen in the lambdoid and posterior sagittal sutures Large head Thinness[learningradiology.com] delayed or failing eruption of permanents dentition.[omicsonline.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • SHORT Syndrome

    dentition.[ncbi.nlm.nih.gov] […] facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed[uniprot.org] Delayed dentition, hypodontia, enamel hypoplasia, malocclusion and multiple dental caries are frequently reported. Ophthalmic anomalies (e.g.[orpha.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Mostly Sporadic
  • Russell-Silver Syndrome

    Cases of Russell-Silver syndrome are mostly sporadic, that is, the disorder may appear in people with no known history of the disease in the family.[symptoma.com]

    Missing: Delayed Dentition Disharmonic Maturation of Phalanges and Carpal Bones
  • Down Syndrome

    Artistic representation of malformation syndromes has been of ongoing interest, often as a point of departure for discussion of medical history. We have identified a 16th-century Flemish Nativity painting in which one angelic figure appears distinctly different from other individuals in the painting with an appearance[…][ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Mostly Sporadic
  • Familial Hypophosphatemia

    Delayed dentition; dental abscesses; deafness; Chiari malformation; extraskeletal calcification of the tendons, ligaments, and joint capsules; and craniosynostosis are occasionally[emedicine.medscape.com] dentition, dental abscesses, and early tooth decay.[consultant360.com] Nevertheless, no gender differences in disease severity were detected in the largest reported series of patients with XLH rickets. 15 Affected patients grow slowly and have delayed[consultant360.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Mostly Sporadic
  • Poland Syndrome

    Disease definition Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Summary Epidemiology The prevalence at birth is about 1 to 3 per 100[…][orpha.net]

    Missing: Delayed Dentition Disharmonic Maturation of Phalanges and Carpal Bones
  • Costello Syndrome

    We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and try to outline the clinical characteristics facilitating early recognition of this syndrome, which can now be corroborated by testing the HRAS gene. Phenotypical overlap of CS with Noonan (NS) and[…][ncbi.nlm.nih.gov]

    Missing: Delayed Dentition Disharmonic Maturation of Phalanges and Carpal Bones
  • Acrodysostosis Type 1

    dentition / eruption of teeth / lack of eruption of teeth - Hearing loss / hypoacusia / deafness - Hypertelorism - Immunodeficiency / increased susceptibility to infections[csbg.cnb.csic.es] Short / small nose Frequent - Anteverted nares / nostrils - Brachycephaly / flat occiput - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Delayed[csbg.cnb.csic.es]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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