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3,291 Possible Causes for Duplication or Triplication of Phalanges, Microcephaly, Wide Space Between the First and Second Toe

  • Kleiner Holmes Syndrome

    Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos Blindness Microcephaly Nonsyndromal Microcephaly Pontocerebellar Hypoplasia Dyskinesia Microcephaly[rgd.mcw.edu] […] 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

    RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[ncbi.nlm.nih.gov] 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.[dx.doi.org]

    Missing: Duplication or Triplication of Phalanges
  • Dubowitz Syndrome

    A small head, often with a receding forehead, large ears and nose is often an associated feature of other disorders, rarely occurring in isolation.[web.archive.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] MICROCEPHALY Infants born with Dubowitz syndrome have primary microcephaly, or a small head size at birth.[encyclopedia.com]

    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] We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart[epublications.vu.lt]

    Missing: Duplication or Triplication of Phalanges
  • Seckel Syndrome

    Primary microcephaly represents an example of clinically and genetically heterogeneous condition.[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] When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis.[ncbi.nlm.nih.gov]

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

    All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[unboundmedicine.com] space between the first and second toes.[medcraveonline.com] There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear[scienceopen.com]

    Missing: Duplication or Triplication of Phalanges
  • Cutis Laxa

    Our observation increases the number of cases with fibulin-4 mutations to three and extends the phenotypic spectrum of fibulin-4 mutations by microcephaly, overgrowth and[ncbi.nlm.nih.gov] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] […] patient that have been described in literature included cutis laxa on hands and feet, visible veins on thorax and abdomen, joint laxity, failure to thrive, short stature, microcephaly[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • Short Stature due to Endocrine Disorder

    Clinical description Addition clinical features include microcephaly, adiposity, and insulin resistance.[orpha.net] 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] Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Prelingual sensorineural[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • West Syndrome

    A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia.[ncbi.nlm.nih.gov] The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs.[ncbi.nlm.nih.gov] The clinical symptoms of these patients are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Seckel Syndrome Type 2

    Interestingly, individuals with primary microcephaly and Seckel syndrome do not display an increased risk of malignancy.[preventiongenetics.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] […] diabetes GFM2 Microcephaly, Amish type SLC25A19 Microcephaly, AP4M1 related AP4M1 Microcephaly, autosomal recessive type 1 MCPH1 Microcephaly, autosomal recessive type 3[centogene.com]

    Missing: Duplication or Triplication of Phalanges

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