Connective Tissue and Skin

CMA

Alagille Syndrome

Albinism

Aortopathies

Arthrogryposis

Birt-Hogg-Dube Syndrome

Brittle Cornea Syndrome

Cholestasis

Dyskeratosis Congenita

Ectodermal Dysplasia

Ectodermal Dysplasisa

Ehlers-Danlos Syndrome

Epidermolysis Bullosa

Focal Dermal Hypoplasia

Fraser Syndrome

Hermansky-Pudlak Syndrome

Ichthyosis

Legius Syndrome

Lipodystrophy

Marfan Syndrome

Myopathy

Neurofibromatosis

Neutropenia

Platelet Function Disorders

Popliteal Pterygium Syndrome

Porphyria

Skeletal Disorders and Joint Problems

Tuberous Sclerosis

Van der Woude Syndrome

Xeroderma Pigmentosum

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