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771 Possible Causes for 11 Rib Pairs, 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] In some cases, 11 pairs of ribs instead of the usual 12 Structural defects in the spine Bent fifth finger (clinodactyly) Foot in a twisted position (clubfoot) Excess body[medindia.net] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[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] […] of ribs (i.e., exhibit 11 rather than 12 pairs of ribs).[rarediseases.org] pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears Simple ears[rarediseases.info.nih.gov]

  • Ring Chromosome 10

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com] Affected individuals may have abnormally thin ribs, 11 rather than 12 rib pairs, an abnormally short neck, abnormal front-to-back and side-to side curvature of the spine ([rarediseases.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]

  • 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: 11 Rib Pairs
  • Atelosteogenesis

    pairs of ribs ; Aplasia/Hypoplasia of the ulna ; Autosomal dominant inheritance ; Brachydactyly ; Cleft palate ; Club-shaped proximal femur ; Clubbing ; Coronal cleft vertebrae[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] CHONDRODYSPLASIA , SPONDYLOHUMEROFEMORAL HYPOPLASIA Classification bone, developmental, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial Phenotypes 11[mousephenotype.org]

    Missing: Cafe-Au-Lait Spots
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Cafe-au-lait spots occur and increase in number over the rst2 years.[documents.tips] pairs of ribs ; Abnormality of the pinna ; Absent knee epiphyses ; Agenesis of cerebellar vermis ; Agenesis of corpus callosum ; Atrial septal defect ; Autosomal recessive[mousephenotype.org] Imaging Some special characteristics of primordial dwarfism commonly seen on X-rays include: delay in bone age by as much as two to five years only 11 pairs of ribs instead[healthline.com]

    Missing: Wide Space Between the First and Second Toe
  • 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] 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] spots, digital anomalies, hip or elbow dislocations, and other abnormalities.[icd10data.com]

    Missing: 11 Rib Pairs
  • Legius Syndrome

    Legius syndrome ( LS ) is an autosomal dominant condition characterized by cafe au lait spots. MD, Robert P. Erickson; PhD, Anthony J. Wynshaw-Boris MD (2016).[en.wikipedia.org] Mother's sister and grandfather have some cafe-au-lait spots.[ncbi.nlm.nih.gov] On assessment he was noted to have multiple cafe-au-lait spots 5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother.[pediatricneurology.conferenceseries.com]

    Missing: 11 Rib Pairs Wide Space Between the First and Second Toe
  • Neurofibroma

    Areas of abnormal skin pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots), freckling in atypical locations such as under the arms ([rarediseases.org] Carriers of this autosomal dominant trait are prone to the occurrence of benign and malignant tumors which present with cafe-au-lait spots, fibromatous tumors in the skin[symptoma.com] Six or more light brown-colored birthmarks (cafe-au-lait spots) may be located anywhere on the body. The spots usually appear before about 9 years of age.[orthoinfo.aaos.org]

    Missing: 11 Rib Pairs Wide Space Between the First and Second Toe
  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[medical-dictionary.thefreedictionary.com] Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps.[ncbi.nlm.nih.gov] Neurofibromatosis type I is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin.[flybase.org]

    Missing: 11 Rib Pairs Wide Space Between the First and Second Toe

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