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2,202 Possible Causes for Duplication or Triplication of Phalanges, Hypertelorism, Wide Space Between the First and Second Toe

  • Kleiner Holmes Syndrome

    Low frontal hairline; Maxillary hypoplasia; Facial asymmetry; Long and prominent ear crus; Small ears; Low-set ears; Apical cartilage deformity; Deafness; Shallow orbits; Hypertelorism[panelapp.genomicsengland.co.uk] […] 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

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[doi.org] […] fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly and wide[doi.org]

    Missing: Duplication or Triplication of Phalanges
  • Ring Chromosome 10

    Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.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] Affiliated tissues include heart and testes , and related phenotypes are hypertelorism and low-set ears[malacards.org]

    Missing: Duplication or Triplication of Phalanges
  • Dubowitz Syndrome

    Fig 2: A 9-year-old boy with Dubowitz syndrome with dental anomalies, hypertelorism, and unilateral ptosis.[healio.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] […] retardation is frequent; birth weight: 2.3 kg; length: 45 cm; cranial perimeter: 30 cm; delayed bone age. head: microcephaly; high forehead; sparse hair; broad nose; epicanthus; hypertelorism[atlasgeneticsoncology.org]

    Missing: Duplication or Triplication of Phalanges
  • Craniofrontonasal Dysplasia

    Nine patients had surgery for hypertelorism. The preferred technique for hypertelorism correction was facial bipartition.[ncbi.nlm.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] Orbital hypertelorism: It is preferred to wait with this treatment until the age of 5–8 years old, after permanent dentition.[en.wikipedia.org]

    Missing: Duplication or Triplication of Phalanges
  • Atelosteogenesis Type 2

    Craniofacial dysmorphism describes a prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate.[malacards.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] Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Facial midline hemangioma 0004664 Hypertelorism[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • Weaver Syndrome

    The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.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] In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • Atelosteogenesis

    The patient had multiple craniofacial abnormalities at birth, including ocular hypertelorism, a flat nasal bridge, micrognathia and a cleft palate.[ncbi.nlm.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] Facial features included proptosis, hypertelorism, downslanting palpebral fissures, cleft palate, and retromicrognathia.[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • Kenny-Caffey Syndrome Type 1

    Affiliated tissues include bone , eye and neutrophil , and related phenotypes are hypertelorism and delayed skeletal maturation[malacards.org] space between the first and second toes.[medcraveonline.com] Affiliated tissues include bone , eye and cortex , and related phenotypes are hypertelorism and delayed skeletal maturation NIH Rare Diseases : 53 Kenny-Caffey syndrome type[malacards.org]

    Missing: Duplication or Triplication of Phalanges
  • Polysyndactyly

    A presumptive diagnosis can be made when a proband has features of preaxial polydactyly, cutaneous syndactyly of toes 1-3 or fingers 3-4, ocular hypertelorism, and macrocephaly[indianpediatrics.net] […] or triplication of phalanges Clinical features from OMIM: 234280 MalaCards organs/tissues related to Hallux Varus and Preaxial Polysyndactyly: 42 Bone Search GEO for disease[malacards.org] Note the hypertelorism and macrocephaly. B.[ojrd.biomedcentral.com]

    Missing: Wide Space Between the First and Second Toe

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