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Items: 2

1.

Spondyloepimetaphyseal dysplasia with multiple dislocations

Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640). [from OMIM]

MedGen UID:
350960
Concept ID:
C1863732
Disease or Syndrome
2.

Delayed phalangeal epiphyseal ossification

Delay in the process of formation and maturation of the epiphysis of one or more phalanx. [from HPO]

MedGen UID:
867249
Concept ID:
C4021609
Finding

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