Connective Tissue and Skin

CMA

Albinism

Aortopathies

Arthrogryposis

Birt-Hogg-Dube Syndrome

Brittle Cornea Syndrome

Cholestasis

Collagenopathy

Dyskeratosis Congenita

Ectodermal Dysplasia

Ehlers-Danlos Syndrome

Epidermolysis Bullosa

Focal Dermal Hypoplasia

Fraser Syndrome

Generalized Arterial Calcification of Infancy

Hermansky-Pudlak Syndrome

Hypopigmentation

Ichthyosis

Lipodystrophy

Marfan Syndrome

Neurofibromatosis

Neutropenia

Popliteal Pterygium Syndrome

Porphyria

Pseudoxanthoma Elasticum

Tuberous Sclerosis

Van der Woude Syndrome

Xeroderma Pigmentosum

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