Developmental dysplasia of the hip 1

Preferred Label : Developmental dysplasia of the hip 1;

Symbol : DDH1;

CISMeF acronym : CDH; DDH; DDH1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Acetabular dysplasia; Hip dysplasia, congenital; DDH; Hip dysplasia, developmental; CDH;

Description : 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 One form of developmental dysplasia of the hip (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21; and Beukes familial hip dysplasia (142669) maps to chromosome 4q35 (Cilliers and Beighton, 1990).;

Inheritance : Multifactorial;

Prefixed ID : %142700;

Details

Origin ID

142700;

UMLS CUI

C1306065;

Automatic exact mappings (from CISMeF team)
- AKR1C1 wt Allele [NCIt concept]
- Acetabular dysplasia [HPO term]
- Acetabular dysplasia [MedDRA LLT]
- Choline Dehydrogenase, Mitochondrial [NCIt concept]
- Congenital diaphragmatic hernia [ORDO Disease]
- Congenital hip dysplasia [PASCAL descriptor]
- Congenital hip dysplasia (disorder) [SNOMED CT concept]
- Developmental dysplasia of hip [ICD-11 Subcategory]
- Developmental hip dysplasia [MedDRA Preferred Term]
- Hip dysplasia [HPO term]
- congenital hip dysplasia [SNOMED Notion]
- hip dislocation, congenital [MeSH Descriptor]
- symbol withdrawn DDH1 [HGNC gene]
HPO term(s)
- Acetabular dysplasia [HPO term]
- Congenital hip dislocation [HPO term]
- Multifactorial inheritance [HPO term]
See also inter- (CISMeF)
- Developmental Dysplasia of Hip [NCIt concept]
- congenital dysplasia of the hip [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to NTBT
- Developmental Dysplasia of the Hip [MeSH Descriptor]

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