Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico. There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems. Signs and symptoms
There are three main disorders caused by Hermansky–Pudlak syndrome, which result in these symptoms:

Albinism and eye problems: Individuals will have varying amounts of skin pigment (melanin). Because of the albinism there are eye problems such as light sensitivity (photophobia), strabismus (crossed eyes), and nystagmus (involuntary eye movements). Hermansky–Pudlak syndrome also impairs vision. Bleeding disorders: Individuals with the syndrome have platelet dysfunction. Since platelets are necessary for blood clotting, individuals will bruise and bleed easily. Cellular storage disorders: The syndrome causes a wax-like substance (ceroid) to accumulate in the body tissues and cause damage, especially in the lungs and kidneys.It is also associated with granulomatous colitis,, an inflammation of the colon, and with pulmonary fibrosis, a potentially fatal lung disease.
A valgus deformity is a condition in which the bone segment distal to a joint is angled outward, that is, angled laterally, away from the bodys midline. The opposite deformation, where the twist or angulation is directed medially, toward the center of the body, is called varus. Common causes of valgus knee (genu valgum or "knock-knee") in adults include arthritis of the knee and traumatic injuries. Knee arthritis with valgus knee
Rheumatoid knee commonly presents as valgus knee. Osteoarthritis knee may also sometimes present with valgus deformity though varus deformity is common. Total knee arthroplasty (TKA) to correct valgus deformity is surgically difficult and requires specialized implants called constrained condylar knees. Examples
Ankle: talipes valgus (from Latin talus = ankle and pes = foot) – outward turning of the heel, resulting in a flat foot presentation. Elbows: cubitus valgus (from Latin cubitus = elbow) – forearm is angled away from the body
Foot: pes valgus (from Latin pes = foot) – a medial deviation of the foot at subtalar joint. Hand: manus valgus (from Latin manus = hand)
Hip: coxa valga (from Latin coxa = hip) – the shaft of the femur is bent outward in respect to the neck of the femur. Coxa valga >125 degrees. Coxa vara <125 degrees. Knee: genu valgum (from Latin genu = knee) – the tibia is turned outward in relation to the femur, resulting in a knock-kneed appearance. Toe: hallux valgus (from Latin hallux = big toe) – outward deviation of the big toe toward the second toe, resulting in bunion.