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2,433 Possible Causes for Flat Facial Profile, Multiple Congenital Anomalies, 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] 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] spacing, often with a deep plantar groove between the first and second toes.[doi.org]

  • 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] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome.[ncbi.nlm.nih.gov]

    Missing: Flat Facial Profile
  • Trisomy 10p

    spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] facial profile 90 Poor Moro reflex 85 Hypotonia 80 Hyperflexibility of large joints 80 Loose skin on back of neck 80 Slanted palpebral fissures 80 Dysmorphic pelvis on radiographs[aafp.org] congenital anomalies.[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

    Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. Accessed 20 May 2006. Robinow, M (1993). "The Robinow (fetal face) syndrome".[en.wikipedia.org]

    Missing: Wide Space Between the First and Second Toe
  • Atelosteogenesis Type 2

    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] Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal[blueprintgenetics.com]

  • 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] congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org] […] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2F Syndromes with multiple structural anomalies, without[genome.jp]

    Missing: Flat Facial Profile
  • Wolf Hirschhorn Syndrome

    Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial[ncbi.nlm.nih.gov] The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies.[ncbi.nlm.nih.gov] anomaly syndromes.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • 17q11 Microdeletion Syndrome

    facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly… CONTINUE READING[semanticscholar.org] A de novo case of the 17q11.2 microdeletion syndrome presenting with multiple congenital anomalies and brain abnormalities to a consanguinous family: A challenging example[ashg.org] facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears.[molecularcytogenetics.biomedcentral.com]

    Missing: Wide Space Between the First and Second Toe
  • Crouzon Syndrome

    […] curved inward) facial profile A prominent nasal bridge (a “beaked” nose) Wide-set, bulging eyes Crossed eyes (strabismus) Underdeveloped upper jaw Protruding lower jaw Overcrowded[childrenshospital.org] CONGENITE MULTIPLE CON RITARDO MENTALE RP0040 SINDROME ALCOLICA FETALE[webalice.it] 11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies as a major feature H01754[genome.jp]

    Missing: Wide Space Between the First and Second Toe
  • Williams-Beuren Syndrome

    Infants have full cheeks and a flat facial profile, whereas older children and adults often have a long narrow face and a long neck. 10,11 Blue- and green-eyed children with[pediatrics.aappublications.org] congenital anomalies/dysmorphic syndrome-intellectual disability, malformation syndrome with short stature, genetic hypertension, partial deletion of the long arm of chromosome[commons.wikimedia.org] […] neurodevelopmental disorder メディアをアップロード ウィキペディア 分類 病気, developmental defect during embryogenesis 上位クラス chromosomal deletion syndrome, 大動脈弁上狭窄症, syndromic developmental defect of the eye, multiple[commons.wikimedia.org]

    Missing: Wide Space Between the First and Second Toe