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176 Possible Causes for Duplication or Triplication of Phalanges, Flat Facial Profile, Wide Space Between the First and Second Toe

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

    Missing: Duplication or Triplication of Phalanges
  • Kleiner Holmes Syndrome

    […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of[malacards.org] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first[rarediseases.info.nih.gov]

    Missing: Flat Facial Profile
  • Atelosteogenesis Type 2

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.[thehealthscience.com] The facial profile was flat with de- pression of the nasal root. The chest was small with lung hypoplasia seen at autopsy, and the abdomen was pro- tuberant.[documents.tips]

    Missing: Duplication or Triplication of Phalanges
  • Autosomal-Recessive Robinow Syndrome

    Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. The gene encoding receptor orphan receptor tyrosine kinase 2 (ROR2) is located on chromosome 9q22 and[…][ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Robinow Syndrome

    facial profile, a long philtrum (Fig 1), hyperplastic alveolar ridges, a small upturned nose, a hypoplastic clitoris, short forearms, absence of the upper lacrimal puncta[jamanetwork.com] ... characterized by craniofacial abnormalities, genital hypoplasia, spinal cord malformations and skeletal dysplasia ... macrocephaly with a flat facial profile, hypertelorism[ibis-birthdefects.org] These result in a flat facial profile. The appearance of the face is similar to that of a fetus of about 8 weeks gestation.[rrnursingschool.biz]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Dubowitz Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ] 0002719 Respiratory insufficiency Respiratory impairment 0002093 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges Flat Facial Profile
  • Trisomy 10p

    spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] facial profile 90 Poor Moro reflex 85 Hypotonia 80 Hyperflexibility of large joints 80 Loose skin on back of neck 80 Slanted palpebral fissures 80 Dysmorphic pelvis on radiographs[aafp.org] […] small well folded ears with ear length on the 3rd centile and attached lobules bilaterally; appearance of a slightly short neck, normal posterior hairline; broad chest with widely[jmg.bmj.com]

    Missing: Duplication or Triplication of Phalanges
  • Ring Chromosome 10

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges Flat Facial Profile
  • 17q11 Microdeletion Syndrome

    facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly… CONTINUE READING[semanticscholar.org] facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears.[molecularcytogenetics.biomedcentral.com] […] novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat[semanticscholar.org]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • High Myopia-Sensorineural Deafness Syndrome

    Characterized by flat facial profile, cleft palate, and severe hearing loss ...[ibis-birthdefects.org] Facial/craniofacial findings include the following characteristics 1 : Flat facial profile caused by underdevelopment of the nasal bridge and maxilla (upper jawbone), which[centogene.com]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe