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3,228 Possible Causes for Preaxial Polysyndactyly, 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] 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]

  • 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: Preaxial Polysyndactyly
  • 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Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] Feet with preaxial polysyndactyly and clubfoot.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]

  • 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] Ears were low set, and neck was short without webbing.[mjdrdypu.org]

    Missing: Preaxial Polysyndactyly
  • 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: Preaxial Polysyndactyly
  • 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: Preaxial Polysyndactyly
  • Schneckenbecken Dysplasia

    The condition may cause cleft palate, short neck, short stature, unusual shape of iliac bones and other bone abnormalities.[xpertdox.com] Amniotic band, cleft lip plate Trisomy 21 VACTERL a Preaxial hallucal polydactyly. b Pre- and postaxial polydactyly. c Central polydactyly. d Postaxial upper and preaxial[basicmedicalkey.com] Overview A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other[checkorphan.org]

    Missing: Wide Space Between the First and Second Toe
  • Hypertrichotic Osteochondrodysplasia

    The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp] polysyndactyly syndrome Hamel cerebro-palato-cardiac syndrome Hand-foot-genital syndrome Harrod syndrome Heart-hand syndrome Heart-hand syndrome type 2 Heart-hand syndrome[se-atlas.de] […] distal phalanx of finger Short outermost finger bone 0009882 Short hallux Short big toe 0010109 Short neck Decreased length of neck 0000470 Skeletal dysplasia 0002652 Umbilical[rarediseases.info.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Pelviscapular Dysplasia

    Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and short neck NIH Rare Diseases : 54 Cousin syndrome is a rare syndrome characterized[malacards.org] POLYSYNDACTYLY 234300 : HALO NEVI 234350 : HALOTHANE HEPATITIS 234580 : HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS 234700 : HEART BLOCK, CONGENITAL[www5.geometry.net] polysyndactyly syndrome Hamel cerebro-palato-cardiac syndrome Hand-foot-genital syndrome Harrod syndrome Heart-hand syndrome Heart-hand syndrome type 2 Heart-hand syndrome[se-atlas.de]

    Missing: Wide Space Between the First and Second Toe
  • Polysyndactyly

    […] rib cage * Short neck * Short stature * Large fontanel * Wide set eyes * Underdeveloped lungs * Breathing problems * Anteverted nostrils * Short head * Downturned mouth *[checkorphan.org] 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]

    Missing: Wide Space Between the First and Second Toe

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