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1,060 Possible Causes for Beaked Nose, Cafe-Au-Lait Spots, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent[ncbi.nlm.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]

  • Seckel Syndrome Type 2

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] nose, narrow face, and receding lower jaw.[resourcerepository.org] nose.[rarediseases.org]

  • Dubowitz Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] nose, abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw.[bertsbigadventure.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]

  • Rubinstein-Taybi Syndrome

    […] uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait[rarediseases.info.nih.gov] A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov] Extra oral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge and beaked nose.[ncbi.nlm.nih.gov]

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

    NF1; neurofibromas, optic nerve gliomas, pigmented nodules in iris (Lisch nodules), cafe au lait spots ( 6), axillary freckling*** (earliest manifestion and not found anywhere[memorize.com] Characteristic facial features can include a distinctive elongated facies, micrognathia, small mouth, high arched palate, low set ears, long philtrum, beaked nose, down-slanting[nature.com]

    Missing: Wide Space Between the First and Second Toe
  • Ring Chromosome 4

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com] Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe[ncbi.nlm.nih.gov] * Beaked nose * Short philtrum * Epicanthal folds * Highly arched palate * Cleft palate * Tooth enamel hypoplasia * Clinodactyly * Thumb aplasia * Thumb hypoplasia * Abnormal[checkorphan.org]

    Missing: Wide Space Between the First and Second Toe
  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.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] Less commonly observed clinical features include cafe au lait spots, genitourinary anomalies, motor, speech, cognitive delays, and hypoglycemia.[mayomedicallaboratories.com]

    Missing: Beaked Nose
  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org] Facial features are primarily characterized by low frontal hairline, arched/thick eyebrows, downslanting of palpebral fissures, a protruding beaked nose with columella below[ijponline.biomedcentral.com] […] shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose changes in skin colour – areas may be darker or lighter than normal cafe-au-lait[medic8.com]

    Missing: Wide Space Between the First and Second Toe
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Cafe-au-lait spots occur and increase in number over the rst2 years.[documents.tips] Facial changes included bitemporal narrowing, aprominent beaked nose, slightly prominent eyes, protuberantears, and a receding chin (Fig. 2).[docslide.com.br] nose, and severe mental retardation [ 2 , 3 ].[link.springer.com]

    Missing: Wide Space Between the First and Second Toe
  • Smith Lemli Opitz Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] nose, and a prominent columella.[journals.lww.com] spots, digital anomalies, hip or elbow dislocations, and other abnormalities.[icd10data.com]

    Missing: Wide Space Between the First and Second Toe

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