Smith's Syndromes II

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  1. Image Upload Marfan
    AD with variable expressivity; FBN1

    arachnodactyly with hyperextensibility, lens subluxation, aortic root dilation, tall stature with slim build; pectus deformity, dolicocephaly, lumbosacral dural ectasia
  2. Image Upload Shprintzen-Goldberg
    AD; mutations in SKI family (TBRII, FBN1)

    marfanoid habitus, dolicocephaly, micrognathia, ocular porptosis, ID
  3. Image Upload  Ehlers-Danlos
    AD; COL5A1, COL5A2, COL1A2 (cardiac vascular type), COL3A1 (vascular type) TNX-B (X-linked)

    • hyperextensible joints and skin, poor would healing, atrophic scars, smooth velvety skin
    • vascular EDS: translucent skin, risk of arterial & organ rupture, joint hypermobility
  4. Image Upload  Loeys-Dietz
    AD with variable expressivity; TBRI/TBRII

    features overlap Marfan and EDS (translucent skin, subtle marfanoid habitus, pectus deformity, aortic root dilation, joint laxity, arachnodacyly, etc.), bifid uvula and/or cleft palate, arterial tortuosity
  5. Osteogenesis Imperfecta
    AD; COL1A1 or COL1A2

    • Type I: fragile bones with mild deformity, blue sclera, deafness secondary to otosclerosis, hypoplasia of dentin
    • Type II: blue sclera, multiple fractures with poorly mineralized bones, abnl brain development
  6. Tuberous Sclerosis
    AD; TSC1 (9q34) and TSC2 (16p13)

    retinal hamartomas, facial angiofibromas, shagreen pathch, hypomelanotic macules, subpendymal nodules, seizures, bone lesions, +/- ID & ASD
  7. Image Upload Neurofibromatosis
    AD; NF1 (17q11.2) in classic form; NF2 in type II disease

    • multiple neurofibromota, café au lait spots +/- bone lesions, lisch nodules
    • Type II: later onset with bilateral acoustic neuromas, neurofibromas, schwannomas, gliomas, meningiomas (few café au lait spots & cutaneous neurofibromas)
  8. Image Upload  Proteus
    pGlu17Lys mutation in AKT

    hemihypertrophy with asymmetrical growth, subcutaneous tumors, macrodactyly
  9. Image Upload Peutz-Jeghers
    AD; LKB1/STK11 tumor suppressor

    mucocutaneous pigmentation, intestinal polyposis, may have polyps affected other organ systems
  10. Multiple Endocrine Neoplasia
    AD; GOF RET mutations

    • Type 2A: medullary thyroid cancer, parathyroid hyperplasia, pheochromocytoma (normal appearance)
    • Type 2B: multiple neuromata of tongue, lips +/- medullary thryoid carcinoma, +/- pheochromocytoma, marfanoid habitus, pectus deformity, skeletal anomalies
  11. Image Upload  Multiple lentigines (LEOPARD)
    AD; (LOF?) PTNPN11, RAF1, BRAF

    lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth, deafness
  12. Image Upload Hypohydrotic Ectodermal Dysplasia
    X-linked recessive; ED1 (ectodysplasin)

    sweating defect, alopecia, hypodontia
  13. Xeroderma Pigmentosa
    AR; sensitive to UV radiation-induced DNA damage due to mutation in XPA, XPC, XPD

    atrophic and pigmentary skin changes, actinic skin tumors, +/- neurologic regression
  14. Image Upload Alagille
    AD with variable expressivity; JAG1 mutation or 20p12 deletion

    paucity of bile ducts & cholestasis, peripheral pulmonic stenosis, peculiar facies (deep-set eyes, pointed chin), butterfly vertebrae
  15. Bardet-Biedl
    mutations in BBS genes

    obesity, ID, retinal rod-cone dystrophy + additional ocular anomalies, postaxial polydactyly, renal anomalies
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Smith's Syndromes II
2015-05-10 22:02:06
genetic syndromes
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