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Items: 6

1.

Acetabular dysplasia

The presence of developmental dysplasia of the acetabular part of hip bone. [from HPO]

MedGen UID:
233069
Concept ID:
C1328407
Anatomical Abnormality; Finding
2.

symptomatic

MedGen UID:
880232
Concept ID:
CN235625
Finding
3.

Hip dysplasia

The presence of developmental dysplasia of the hip. [from HPO]

MedGen UID:
504822
Concept ID:
CN001267
Finding
4.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
5.

Dysplasia of acetabulum

Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. [from OMIM]

MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
6.

Acetabular dysplasia

MedGen UID:
370030
Concept ID:
C1969513
Finding
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