Rare Disease Library

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Autosomal recessive carpotarsal osteolysis

Hereditary multicentric osteolysis

Carpotarsal osteochondromatosis

Maroteaux-Le Merrer-Bensahel syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Multicentric carpo-tarsal osteolysis with or without nephropathy

Idiopathic multicentric osteolysis with or without nephropathy

OBSOLETE: Osteochondritis of tarsal/metatarsal bone

Osteochondrosis of the metatarsal bone

Freiberg infraction · Avascular necrosis of the metatarsal bone

Osteochondrosis of the tarsal bone

Avascular necrosis of the tarsal bone · Kohler disease

Patella aplasia-coxa vara-tarsal synostosis syndrome

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Spondylocarpotarsal synostosis

Synspondylism

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

Tarsal kink syndrome

Tarsal-carpal coalition syndrome

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS