- Legius syndrome – café au lait macules, learning disabilities (mutations in SPRED1)
- Noonan syndrome – webbing of the neck, pectus abnormality, cryptorchidism, pulmonic stenosis;
- McCune-Albright syndrome – polyostotic fibrous dysplasia, irregular skin pigmentation, sexual precocity;
- Watson syndrome – café au lait macules, pulmonic stenosis, and low normal intelligence;
- LEOPARD syndrome – multiple lentigines, ocular hypertelorism, pulmonic stenosis, abnormalities of the genitalia, growth retardation, deafness, pectus deformity;
- Silver-Russel syndrome – short stature of prenatal onset, skeletal asymmetry, small incurved fifth finger;
- Bloom syndrome – short stature, malar hypoplasia, telangiectatic erythema of the face;
- Sotos syndrome – large size, large hands and feet, hypotonia;
- Dubowitz syndrome – unusual facies, infantile eczema, small stature, mild microcephaly;
- Klippel-Trenaunay-Weber syndrome – asymmetric limb hypertrophy, cutaneous vascular malformations; and
- Proteus syndrome – hemihypertrophy, subcutaneous tumors, macrodactyly.
- Bannayan-Riley-Ruvalcaba syndrome – macrocephaly, polyposis of colon, lipomas, pigmentary changes of the penis;
- Carney syndrome – nevi, atrial myxoma, neurofibromas, endocrine overactivity;
- Proteus syndrome – hemihypertrophy, subcutaneous tumors, macrodactyly;
- Maffuci syndrome – enchondromatosis, hemangiomata;
- Multiple endocrine neoplasia 2B – multiple neuromata of tongue, lips with or without medullary thyroid carcinoma, with or without pheochromocytoma;
- von Hippel-Lindau syndrome – retinal angiomata, cerebellar hemangioblastoma;
- Gardner syndrome – intestinal polyposis; and
|Author:||David A. Stevenson, MD - 11/2004|
|Content Last Updated:||6/2013|
Smith's Recognizable Patterns of Human Malformation.
5th ed. Philadelphia: W. B. Saunders Company; 1997. 0721661157
Concise reviews of syndromes with an emphasis on dysmorphology. Syndromes described in sections broken down into abnormalities, natural history, and etiology.
Neurofibromatosis Type 1.
Management of Genetic Syndromes, 3rd Edition. 2010; 549-568. New York: Wiley-Blackwell; http://www.wiley.com/WileyCDA/WileyTitle/productCd-0470191414.html
Excellent review of NF1 by an expert in the field. Book is a great resource for Medical Home providers, with chapters on 25 different genetic conditions.