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1,372 Possible Causes for Cutaneous Syndactyly of Digits, Exophthalmos, Microcephaly (2-3 SD)

Did you mean: Cutaneous Syndactyly of Digits, Exophthalmos, Microcephaly (2-3 SD

  • Saethre-Chotzen Syndrome

    Brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present.[orpha.net] Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.[ojrd.biomedcentral.com] Severe exophthalmos with corneal ulcerations is commonly observed.[rrnursingschool.biz]

    Missing: Microcephaly (2-3 SD)
  • Sclerosteosis Type 2

    […] may increase the risk of fracture with delayed consolidation. 14 It has been described a typical disease phenotype characterized by craniomegaly with prominent forehead, exophthalmos[elsevier.es] Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org] Other features may include: a slender build with long limbs; angular profile; prominent bones (asthenic habitus); hearing loss; protruding eyeballs (exophthalmos); optic nerve[encyclopedia.com]

  • Apert Syndrome

    Apert syndrome is characterized by a triad of craniosynostosis, craniofacial dysmorphism and cutaneous and osseous syndactyly of the digits.[doi.org] We report this case of Apert syndrome with exophthalmos, exotropia, and IOOA.[ncbi.nlm.nih.gov] The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes).[ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • Acute Sinusitis

    A case of balloon frontal sinuplasty in a 12-year old male with intracranial abscess from acute sinusitis is presented. The patient experienced photophobia, fever, headache, nausea and vomiting. Frontal sinusitis with intracranial abscess was diagnosed on imaging. The patient was taken to the operating room for[…][ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Heart Failure

    Chronic marked elevation of the systemic venous pressure may produce exophthalmos and severe tricuspid regurgitation, and it may lead to visible pulsation of the eyes and[emedicine.medscape.com] […] dyspnea at rest Orthopnea Acute pulmonary edema Chest pain/pressure and palpitations Tachycardia Fatigue and weakness Nocturia and oliguria Anorexia, weight loss, nausea Exophthalmos[emedicine.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Hyperthyroidism

    In the patients with goiter, hyperthyroidism, and symptoms of exophthalmos, the level of expression of IL-6 was significantly higher than that of patients without exophthalmos[ncbi.nlm.nih.gov] A 22-year-old lactating mother presented with symptoms of uneasiness, palpitation, tachycardia and exophthalmos.[ncbi.nlm.nih.gov] Most do not have exophthalmos or tremor. Atrial fibrillation, syncope, altered sensorium, heart failure, and weakness are more likely.[merck.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Malpuech Syndrome

    There were five shortened fingers in both hands, all fingers being abnormally widely separated despite partial cutaneous syndactyly of digits 2/3 and 4/5 bilaterally.[slideheaven.com] Symptoms Head: Microcephaly Neuro: Hypoplasia of corpus callosum; Seizures; Psychomotor retardation Eyes: Exophthalmos Mouth: Cleft lip/palate Limbs: Preaxial polydactyly[findzebra.com] […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com]

  • Graves Disease

    Exophthalmos, myxedema, and osteoarthropathy syndrome is a very rare condition that is associated with Graves' disease.[ncbi.nlm.nih.gov] INTRODUCTION: The presence of bilateral exophthalmos and palpebral, periorbital edema associated with hyperthyroidism is most often considered as an initial sign of Graves[ncbi.nlm.nih.gov] […] goiter with exophthalmos (disorder) , Basedow's disease (disorder) , Flajani , Graves , Basedow , exophthalmic; goiter , exophthalmos; goiter (etiology) , exophthalmos; goiter[fpnotebook.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Periostitis

    […] pupilary nerves can affect causing poor control over controlling the light entering to the eyes( due to afferent pupillary defects)[11][12]. eye ball projecting out than usual exophthalmos[explainmedicine.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Isolated Agammaglobulinemia

    Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations.[mendelian.co] Physical examination reveals tachycardia and exophthalmos. Her thyroid is diffusely enlarged and warm on palpation.[quizlet.com] […] findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukaemia 4. serum IgG and IgA more than 2 SD below normal for age 5.[esid.org]

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