A group of genetic disorders characterized by a complete or partial absence of melanin, resulting in white hair, pale skin, and pink or light blue eyes.
A rare immunodeficiency with partial oculocutaneous albinism (silvery-gray hair, light skin), recurrent infections, and giant granules in white blood cells.
A rare syndrome combining hypopigmentation of the skin and hair with severe neurologic defects and ocular abnormalities.
Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome can have features of sparse, fair hair and diffuse hypopigmentation.
A rare immunodeficiency characterized by partial albinism (silvery-gray hair and light skin) and either neurologic or immunologic dysfunction.
A form of oculocutaneous albinism combined with a platelet storage pool defect, leading to easy bruising and prolonged bleeding.
A metabolic disorder that can cause fair skin and hair, along with skeletal abnormalities, lens dislocation, and thromboembolic events.
An X-linked copper metabolism disorder causing progressive neurodegeneration and characteristic coarse, kinky, hypopigmented hair ("pili torti").
An untreated metabolic disorder that competitively inhibits melanin production, leading to progressively lighter skin, hair, and eye color compared to family members.
A rare genetic disorder characterized by profound congenital deafness and a uniform, milky-white hypopigmentation of the skin and hair.
