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Brachydactylous dwarfism, Mseleni type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Brachydactylous dwarfs of Mseleni; Mseleni joint disease
SNOMED CT: Mseleni joint disease (715470008); Brachydactylous dwarfism Mseleni type (715470008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
Concept ID:
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Monarch Initiative: MONDO:0013232
OMIM®: 613342
Orphanet: ORPHA2619


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

From HPO
Severe short stature
MedGen UID:
Concept ID:
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactylous dwarfism, Mseleni type
Follow this link to review classifications for Brachydactylous dwarfism, Mseleni type in Orphanet.

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