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3,207 Possible Causes for Duplication or Triplication of Phalanges, Short Neck, Wide Space Between the First and Second Toe

  • Kleiner Holmes Syndrome

    […] stature Milia Short distal phalanx of the 2nd finger Poor motor coordination Scoliosis Short proximal phalanx of finger Short neck Kyphosis Severe short stature Short proximal[mendelian.co] […] 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]

  • Down Syndrome

    Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue[cdc.gov]

    Missing: Duplication or Triplication of Phalanges
  • Craniofrontonasal Dysplasia

    neck Short stature Split nail Telecanthus Toe syndactyly Umbilical hernia Unilateral breast hypoplasia Wide nasal bridge Widow's peak X-linked dominant inheritance Last updated[familydiagnosis.com] 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] neck Sprengel anomaly Toe syndactyly Congenital anomaly of eye Exotropia Hypertelorism Nystagmus Ear malformation Sensorineural hearing loss Growth abnormality Hemihypotrophy[familydiagnosis.com]

    Missing: Duplication or Triplication of Phalanges
  • Atelosteogenesis

    […] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing[mousephenotype.org] 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] […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org]

    Missing: Duplication or Triplication of Phalanges
  • Ring Chromosome 10

    neck Decreased length of neck 0000470 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thin vermilion border Decreased volume of lip Thin lips [ more ][rarediseases.info.nih.gov] 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] […] big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ] 0001852 Seizures Seizure 0001250 Short[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • Atelosteogenesis Type 2

    […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] 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] […] hyperlordosis ; Malar flattening ; Micrognathia ; Micromelia ; Midface retrusion ; Platyspondyly ; Pulmonary hypoplasia ; Respiratory insufficiency ; Sandal gap ; Scoliosis ; Short[mousephenotype.org]

    Missing: Duplication or Triplication of Phalanges
  • Dubowitz Syndrome

    The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] 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] neck Apart from these, there are secondary signs and features that are noted in a few children.[dovemed.com]

    Missing: Duplication or Triplication of Phalanges
  • Mucopolysaccharidosis

    Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[omicsonline.org] It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Pseudohypoparathyroidism Type 1A

    Her physical examination noted a stocky physique, broad chest, short neck and short digits.[ncbi.nlm.nih.gov] Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present.[disorders.eyes.arizona.edu] neck Short hand bones, especially the bone below the 4th finger Short height Your health care provider will recommend calcium and vitamin D supplements to maintain a proper[medlineplus.gov]

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

    Klippel-Feil syndrome type II is massive fusion of two of seven cervical vertebrae associated with short neck and low hair line.[ncbi.nlm.nih.gov] Figure 1 Face photograph (A) Blue sclera in osteogenesis imperfecta and (B) short neck.[n.neurology.org] She had blue sclera and short neck ( figure 1 ), right hypoglossal palsy, bilateral pyramidal tract signs, and gaze-evoked nystagmus.[n.neurology.org]

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

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