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473 Possible Causes for Brushfield Spots, Preaxial Polysyndactyly, 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] Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[medterms.com] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

    Missing: Preaxial Polysyndactyly
  • Kleiner Holmes Syndrome

    His younger brother had preaxial polysyndactyly of the great toes.[omim.org] […] 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] […] 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: Brushfield Spots
  • Familial Congenital Nasolacrimal Duct Obstruction

    polysyndactyly of the feet, soft tissue syndactyly of the hands, and brachydactyly and duplication of the second toe may be seen in many of these patients.[entokey.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Associated features include generalized hypotonia, transverse palmar creases (simian lines),shortening and incurving of the 5th fingers (clinodactyly),Brushfield's spots and[quizlet.com]

  • Adactyly of Foot

    , 112 polysynostoses syndrome, 295 popliteal pterygium syndrome, 389 Popliteal web syndrome, 390 postaxial polydactyly, 407, 411 Prader-Willi syndrome, 261 preaxial polydactyly[docplayer.net] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com] spots, 89 hamartomata, 24 isolated congenital nail dysplasia, 469 J Jackson-Weiss syndrome, 209 Jadassohn nevus phakomatosis, 366 joint ankylosis, 59 contracture, 59 hypermobility[docplayer.net]

  • Atelosteogenesis Type 2

    Feet with preaxial polysyndactyly and clubfoot. Sprengel anomaly. Cardiac and genitourinary anomalies.[musculoskeletalkey.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] Brachysyndactyly of the hands and preaxial polysyndactyly of the feet. Correction of genu valgum to stabilize patellae. Pilonidal dimple with absent coccyx.[musculoskeletalkey.com]

    Missing: Brushfield Spots
  • Isolated Brachycephaly

    polysyndactyly of the feet -May have mental deficiencies -Congential heart defects (up to 30%) What is the incidence of craniosynostosis?[quizlet.com] Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[patient.info] Intelligence usually normal -Midface hypoplasia Features of Carpenter syndrome Rare - 1 / 1,000,000 AR Likely FGFR Features -Craniosynostosis (various sutures) -Partial syndactyly -Preaxial[quizlet.com]

    Missing: Wide Space Between the First and Second Toe
  • Partial Trisomy 21 in Down Syndrome

    We also noticed preaxial polysyndactyly and abnormal dermatoglyphs on his left hand but without the presence of the simian crease.[omicsonline.org] Brushfield spots may be observed in the iris.[symptoma.com] Physical characteristics may include depressed nasal bridge, low-set ears, mouth-breathing and brushfield spots and bilateral epicanthal folds.[blog.geneticslab.emory.edu]

    Missing: Wide Space Between the First and Second Toe
  • Autosomal Dominant Mental Retardation Type 21

    Noack (1959) reported a 43-year-old man and his 11-month-old daughter, both of whom exhibited acrocephaly and polysyndactyly.[genome.jp] ) spots overlying the iris of the eye.[diapedia.org] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu]

    Missing: Wide Space Between the First and Second Toe
  • Macrocephaly-Developmental Delay Syndrome

    Patients present with preaxial or postaxial polydactily with or without syndactily and craniofacial features, including large head and hypertelorism.[journals.lww.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] spots: Down syndrome Prominent eyes: Beckwith-Wiedemann syndrome Lisch nodules: neurofibromatosis Large pinna: Fragile X syndrome Malformed pinna: Treacher Collins syndrome[learn.pediatrics.ubc.ca]

  • Polysyndactyly

    42 Bone Search GEO for disease gene expression data for Hallux Varus and Preaxial Polysyndactyly.[malacards.org] Fig. 1 Preaxial polysyndactyly with Delta phalanx.[indianpediatrics.net] The acrocallosal syndrome comprises preaxial polysyndactyly, macrocephaly, agenesis of the corpus callosum, mental retardation, seizures, and hernias [ 20 ].[ojrd.biomedcentral.com]

    Missing: Brushfield Spots Wide Space Between the First and Second Toe

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