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 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
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Shprintzen-Goldberg
AD; mutations in SKI family (TBRII, FBN1)
marfanoid habitus, dolicocephaly, micrognathia, ocular porptosis, ID
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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
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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
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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
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Tuberous Sclerosis
AD; TSC1 (9q34) and TSC2 (16p13)
retinal hamartomas, facial angiofibromas, shagreen pathch, hypomelanotic macules, subpendymal nodules, seizures, bone lesions, +/- ID & ASD
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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)
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Proteus
pGlu17Lys mutation in AKT
hemihypertrophy with asymmetrical growth, subcutaneous tumors, macrodactyly
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Peutz-Jeghers
AD; LKB1/STK11 tumor suppressor
mucocutaneous pigmentation, intestinal polyposis, may have polyps affected other organ systems
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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
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Multiple lentigines (LEOPARD)
AD; (LOF?) PTNPN11, RAF1, BRAF
lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth, deafness
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Hypohydrotic Ectodermal Dysplasia
X-linked recessive; ED1 (ectodysplasin)
sweating defect, alopecia, hypodontia
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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
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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
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Bardet-Biedl
mutations in BBS genes
obesity, ID, retinal rod-cone dystrophy + additional ocular anomalies, postaxial polydactyly, renal anomalies
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