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GTR Home > Conditions/Phenotypes > Brachydactylous dwarfism, Mseleni type

Brachydactylous dwarfism, Mseleni type

Synonyms
Brachydactylous dwarfs of Mseleni; Mseleni joint disease
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient''s ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder. [from SNOMEDCT_US]

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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