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1,270 Possible Causes for Duplication or Triplication of Phalanges, Dysmorphic Face, Wide Space Between the First and Second Toe

  • 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] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

  • 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
  • Seckel 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] face (bird-like), and mild to severe intellectual disability.[orpha.net] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org]

    Missing: Duplication or Triplication of Phalanges
  • Russell-Silver 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] […] and further dysmorphisms.[ncbi.nlm.nih.gov] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[jmg.bmj.com]

    Missing: Duplication or Triplication of Phalanges
  • 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] Developmental Delay : behind schedule in reaching milestones of early childhood development Dysmorphic Face : this refers to minor facial anomalies that occur fairly frequently[ric.edu] The head is usually microcephalic and face is small with some elongation with age.[dubowitzsyndrome.net]

    Missing: Duplication or Triplication of Phalanges
  • Klinefelter Syndrome

    Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems. Hypogonadism gynecomastia and infertility are the most common symptoms that suggest a[…][symptoma.com]

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

    Marfan syndrome is an autosomal dominant disorder of the connective tissue. It was first described by the French pediatrician Antoine Marfan in 1896. There are more than 25-30 different signs and symptoms in Marfan syndrome which can be of variable intensity and differ from patient to patient. Some people may[…][symptoma.com]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • 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] face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait[chr7.org] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org]

    Missing: Duplication or Triplication of Phalanges
  • Skeletal Dysplasia

    Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

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

    Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. Most frequent cytogenetic abnormality is free and homogeneous trisomy 13 (80.0%), rarely being detected trisomy mosaics or Robertsonian[…][ncbi.nlm.nih.gov]

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