Create issue ticket

834 Possible Causes for Cafe-Au-Lait Spots, Persistent Growth Deficiency, 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] 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] 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] 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 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148[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] During infancy, the proband experienced growth deficiency, persistent hypoglycemia, and psychomotor developmental delay.[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]

  • 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] Persistent generation of aneuploid cells and the subsequent loss of these cells would invariably predispose to significant growth deficiencies undermining the growth rate[tp.amegroups.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]

  • 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] Considerations for testing Analysis of the BLM gene may be considered in individuals with the following: unexplained and severe intrauterine growth deficiency that persists[invitae.com] , 2009 Diagnosis Clinical Diagnosis Bloom’s syndrome should be considered in the following: An individual with unexplained, severe intrauterine growth deficiency that persists[flipper.diff.org]

    Missing: Wide Space Between the First and Second Toe
  • Short Stature due to Endocrine Disorder

    […] lower jaw Small jaw Small lower jaw [ more ] 0000347 Neonatal hyperbilirubinemia 0003265 Osteoporosis 0000939 Small placenta 0006266 5%-29% of people have these symptoms Cafe-au-lait[rarediseases.info.nih.gov] Banerjee I, Tudorancea A, Scanlon MF, Gregory JW: Are factors at diagnosis of growth hormone deficiency in childhood associated with persistence of growth hormone deficiency[karger.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]

  • Ring Chromosome 15

    CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots.[msjonline.org] Persistent generation of aneuploid cells and the subsequent loss of these cells would invariably predispose to significant growth deficiencies undermining the growth rate[tp.amegroups.com] Other symptoms might include congenital heart defects , kidney problems, congenital dislocation of the hips, and cafe-au-lait spots .[rarediseases.info.nih.gov]

    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: Persistent Growth Deficiency
  • Familial Congenital Nasolacrimal Duct Obstruction

    Burkholderia Infections Burkitt Lymphoma Burning Mouth Syndrome Burns Burns, Chemical Burns, Electric Burns, Inhalation Bursitis Byssinosis Cachexia Cadaver Cadmium Poisoning Cafe-au-Lait[medgene.med.harvard.edu] Growth hormone markers should be checked if the growth pattern is suggestive of growth hormone deficiency (e.g., failed linear growth despite good nutritional reserves).[medicalhomeportal.org] Spots Calcinosis Calciphylaxis Calcium Metabolism Disorders Calculi Caliciviridae Infections Callosities Campylobacter Infections Canavan Disease Candidiasis Candidiasis,[medgene.med.harvard.edu]

  • Ring Chromosome 7

    Common clinical manifestations in r(7) are: growth delay, microcephaly, and dermato- logical abnormalities such as dark pigmented naevi and ‘‘cafe -au-lait’’ spots.[slideshare.net] Persistent generation of aneuploid cells and the subsequent loss of these cells would invariably predispose to significant growth deficiencies undermining the growth rate[tp.amegroups.com] […] abnormalities Cerebellar abnormality Cerebellar anomaly [ more ] 0001317 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Cafe-au-lait[rarediseases.info.nih.gov]

    Missing: Wide Space Between the First and Second Toe

Similar symptoms