Epiphyseal Dysplasia, Multiple, 3

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OMIM 57 600969 MedGen 42 C1832998 C3152083 MeSH 44 D010009

SNOMED-CT via HPO 69 263681008 254080004 225655006 396275006 249939004 more UMLS 73 C1832998

UniProtKB/Swiss-Prot : ⁷⁵ Multiple epiphyseal dysplasia 3: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 3, also known as multiple epiphyseal dysplasia 3, is related to multiple epiphyseal dysplasia. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain). Affiliated tissues include bone, and related phenotypes are abnormality of the hip joint and epiphyseal dysplasia

OMIM : ⁵⁷ Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400). (600969)

Clinical features from OMIM:

600969

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