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Childhood onset short-limb short stature

MedGen UID:
Concept ID:
Synonym: Short-limb dwarfism identifiable during childhood
HPO: HP:0011405

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChildhood onset short-limb short stature

Conditions with this feature

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
Concept ID:
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.

Recent clinical studies


Witters I, Moerman P, Mornet E, Fryns JP
Prenat Diagn 2004 Jul;24(7):494-7. doi: 10.1002/pd.859. PMID: 15300736

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