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2,944 Possible Causes for Absent Pulp Chambers, Muscle Hypotonia, Sparse Hair

  • Goldberg-Shprintzen Syndrome

    hair), cleft palate and iris coloboma.[humpath.com] hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine[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
  • 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] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[medicalhomeportal.org] 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
  • Weaver Syndrome

    Tall, broad, prominent forehead, sparse hair in frontotemporal region.[genetics4medics.com] Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.com] hair 0008070 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Umbilical hernia 0001537[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers
  • Dubowitz Syndrome

    An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial[ncbi.nlm.nih.gov] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] Keywords Cleft Palate Fetal Alcohol Syndrome Facial Asymmetry Bloom Syndrome Sparse Hair These keywords were added by machine and not by the authors.[link.springer.com]

    Missing: Absent Pulp Chambers
  • Wiedemann-Rautenstrauch Syndrome

    They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles,[en.wikipedia.org] In addition, in many cases, infants and children with the disorder lack head control, exhibit diminished muscle tone (hypotonia), and have an impaired ability to coordinate[rarediseases.org] During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy[ncbi.nlm.nih.gov]

    Missing: Absent Pulp Chambers
  • Pallister-Killian Syndrome

    The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, hypopigmented patches, frontal bossing, hearing loss, hypertrophic dilated cardiomyopathy[ncbi.nlm.nih.gov] Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features,[diseaseinfosearch.org] […] ridges, hypertelorism, flat nasal bridge, long philtrum, short neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual[symptoma.com]

    Missing: Absent Pulp Chambers
  • Singleton Merten Syndrome

    Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition.[mendelian.co] Another related syndrome "familial otodentodysplasia" is characterized by the posterior teeth with abnormal morphology, large pulp chambers, short root length compared to[indjos.com] Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone ( hypotonia ); progressive wasting of the muscles ( muscle atrophy[rarediseases.info.nih.gov]

  • Lenz-Majewski Syndrome

    hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] hair 0008070 Sporadic No previous family history 0003745 Syndactyly Webbed fingers or toes 0001159 Thin skin 0000963[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers
  • Ehlers-Danlos Syndrome Spondylodysplastic Type 2

    hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.[orpha.net] Severe short stature has been disclosed also in LRS patients, while data concerning muscle hypotonia were not available (Table 1 ).[ojrd.biomedcentral.com] Other common signs are thin & sparse hair, an overly large head at infancy (macrocephaly), loose but elastic skin on the face, loose joints that have an abnormal range of[diseaseinfosearch.org]

    Missing: Absent Pulp Chambers
  • De Barsy Moens Diercks Syndrome

    Dysmorphic features usually include large fontanelles, a prominent forehead, large low-set ears, a pinched nose and sparse hair.[cags.org.ae] However, features such as muscle hypotonia, cataracts, mental retardation, and neurologic deficits are not readily explained by abnormalities of the elastic system.[jamanetwork.com] Other features include joint hyperlaxity, bone fragility, muscle hypotonia, hip dislocation, sunken eyes, microcorneas, and failure to thrive.[accessanesthesiology.mhmedical.com]

    Missing: Absent Pulp Chambers

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