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2,684 Possible Causes for Dysmorphic Face, Recurrent Bacterial Infection, Wide Space Between the First and Second Toe

  • Kenny-Caffey Syndrome Type 1

    It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections.[medical-dictionary.thefreedictionary.com] space between the first and second toes.[medcraveonline.com] The association of severe short stature, dysmorphic face, teeth abnormalities and bone dysplasia must guide us to suggest the diagnosis especially in the Middle Eastern and[abstracts.eurospe.org]

  • Alpha-Mannosidosis

    Frequent clinical findings include recurrent bacterial infections, deafness, hepatomegaly, and lenticular or corneal opacities.[emedicine.medscape.com]

    Missing: 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] spacing, often with a deep plantar groove between the first and second toes.[doi.org] […] fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly and wide[doi.org]

    Missing: Recurrent Bacterial Infection
  • Seckel 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] face (bird-like), and mild to severe intellectual disability.[orpha.net] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org]

    Missing: Recurrent Bacterial Infection
  • Sanjad-Sakati Syndrome

    A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS[scienceopen.com] […] is: Long narrow face Deep-set, small eyes Beaked nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply[dailyrounds.org] bacterial infections.[ijcpjournal.org]

    Missing: Wide Space Between the First and Second Toe
  • 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] […] and further dysmorphisms.[ncbi.nlm.nih.gov] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[jmg.bmj.com]

    Missing: Recurrent Bacterial Infection
  • X-Linked Agammaglobulinemia

    The diagnosis was delayed due to near-normal levels of serum immunoglobulins, although he presented with severe and recurrent bacterial infections since the age of 1year.[ncbi.nlm.nih.gov] ., tetralogy of Fallot , persistent truncus arteriosus ; , ventricular septal defect ( VSD ) , atrial septal defect ( ASD ) Anomalous face ; dysmorphic facial features: prominent[amboss.com] Patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Osteogenesis Imperfecta

    bacterial infections, or extramedullary plasmacytomas) Monoclonal gammopathy of undetermined significance (MGUS): Absence of symptoms M-protein 3 g/dL 10% plasma cells in[en.wikibooks.org] Subtle dysmorphism, log face with prominent mandible and large ears, macroorchidism in postpubertal males, behavioral abnormalities, due to lack of FMR1 in areas such as the[en.wikipedia.org] 3 g/dL) an M-protein in the urine ( 1 g/dL) lytic bone lesions Must have the presence of clinical features ( CRAB : hypercalcemia, renal failure, anemia, lytic lesions, recurrent[en.wikibooks.org]

    Missing: Wide Space Between the First and Second Toe
  • Complement Factor I Deficiency

    Bacterial Infections -Primary -Complement deficiencies -Factor H and I Hematologic/Lymphoproliferative Disorders -Secondary -Hodgkin s disease/Lymphomas -Leukemia -Myeloma[quizlet.com] ., tetralogy of Fallot, persistent truncus arteriosus, ventricular septal defect ( VSD ), atrial septal defect (ASD) A nomalous face ; dysmorphic facial features: prominent[amboss.com] The development of severe, persistent recurrent bacterial infection is a better indicator.[patient.info]

    Missing: Wide Space Between the First and Second Toe
  • Mucopolysaccharidosis

    Bacterial Infections Chronic ear infections are common.[medicalhomeportal.org] Physicians should have a low threshold for placing pressure equalization (PE) tubes since most individuals will have recurrent and frequent ear infections.[medicalhomeportal.org]

    Missing: Wide Space Between the First and Second Toe

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