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383 Possible Causes for Flat Facial Profile, Preaxial Polysyndactyly, Wide Space Between the First and Second Toe

  • Down Syndrome

    How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

    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: Flat Facial Profile
  • 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] Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.[thehealthscience.com]

  • Autosomal-Recessive Robinow Syndrome

    Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. The gene encoding receptor orphan receptor tyrosine kinase 2 (ROR2) is located on chromosome 9q22 and[…][ncbi.nlm.nih.gov]

    Missing: Preaxial Polysyndactyly Wide Space Between the First and Second Toe
  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    LH3 deficiency syndrome LH3 deficiency syndrome can manifest with a characteristic facies of shallow orbits, a small nose, down-turned mouth corners, a flat facial profile[nature.com] 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] […] disease, infantile type HSD10 disease, neonatal type Hair defect-photosensitivity-intellectual disability syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallux varus-preaxial[se-atlas.de]

    Missing: Wide Space Between the First and Second Toe
  • 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] […] palate. 7 , 80 , 81 Other anomalies include pes varus, genu valgum, laterally displaced patella, ilial flaring, and decreased hip mobility. 15 , 74 , 79 , 82 , 83 , 84 , 85 Preaxial[entokey.com]

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

    facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction[aafp.org] Noack (1959) reported a 43-year-old man and his 11-month-old daughter, both of whom exhibited acrocephaly and polysyndactyly.[genome.jp] 600 to 800 births Results from extra copy of chromosome 21, usually a sporadic event; 2% of cases may be inherited from a balanced translocation carrier parent Hypotonia; flat[aafp.org]

    Missing: Wide Space Between the First and Second Toe
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    The flat facial profile of Marshall syndrome is usually evident into adulthood, unlike Stickler syndrome.[encyclopedia.com] Triphalangeal thumb-polysyndactyly syndrome, 174500 (3) LMBR1L G:610007 . .[usegalaxy.org] Spondyloepiphyseal dysplasia congenita, a disorder with skeletal changes more severe than in Stickler syndrome, manifests in significant short stature, flat facial profile[encyclopedia.com]

    Missing: Wide Space Between the First and Second Toe
  • 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] […] abductus anomaly, 307, 422 pollicization, 309 polydactyly, 88, 131, 162, 203, 206, 248, 335, 425 postaxial, 407 radial, 335 ulnar, 337, 407 polyostotic fibrous dysplasia, 233 polysyndactyly[docplayer.net]

    Missing: Flat Facial Profile