Content

»	Syndromes with Premature Aging
	»	Werner Syndrome (Adult Progeria)
	»	Progeria (Hutchinson–Gilford Syndrome)
»	Disorders with Immunodeficiency
	»	Familial Chronic Mucocutaneous Candidiasis (FCMC)
	»	Hyper-IgE Syndrome (Job Syndrome)
	»	Wiskott–Aldrich Syndrome (WAS)
	»	Severe Combined Immunodeficiency (SCID)
	»	Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
»	Disorders of Pigmentation
	»	Oculocutaneous Albinism (OCA)
	»	Chédiak–Higashi Syndrome
	»	Hermansky–Pudlak Syndrome
	»	Griscelli Syndrome
	»	Hypomelanosis of Ito
	»	Incontinentia Pigmenti (Bloch–Sulzberger Syndrome)
	»	Piebaldism
	»	Waardenburg Syndrome
»	Disorders with Pigmented Lesions
	»	McCune–Albright Syndrome (Polyostotic Fibrous Dysplasia)
	»	Russell–Silver Syndrome
»	Vascular Disorders
	»	Sturge–Weber Syndrome (SWS)
	»	Klippel–Trénaunay Syndrome (KTS)
	»	Proteus Syndrome
	»	Cobb Syndrome
	»	Von Hippel–Lindau Syndrome (VHL)
	»	Beckwith–Wiedemann Syndrome
	»	Rubinstein–Taybi Syndrome
	»	Mafucci Syndrome
	»	Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
	»	Cornelia de Lange Syndrome
	»	Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu)
	»	Hereditary Lymphedema (Milroy Disease)
	»	Lymphedema–Distichiasis Syndrome
	»	Noonan Syndrome
	»	Turner Syndrome
	»	Meige Lymphedema (Hereditary Lymphedema II)

Cornelia de Lange Syndrome

Figure 2.28
A: Rubinstein–Taybi syndrome
B: Blue rubber bleb syndrome
(Courtesy of Dr. Michelle
B. Bain)
C: Cornelia de Lange syndrome
(Courtesy of Dr. Karen Bryson)

(Figure 2.28C)

AD, but mainly sporadic, NIPBL (nipped-beta-like gene)
Cutis marmorata, synophrys, trichomegaly, craniofacial abnormalities, MR, deafness, low-pitched cry, clinodactyly