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1.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

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. [from GeneReviews]

MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
2.

Small epiphyses of the phalanges of the hand

Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. [from HPO]

MedGen UID:
866949
Concept ID:
C4021305
Anatomical Abnormality

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