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Desbuquois dysplasia +     
Desbuquois Dysplasia 1  
Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx. Desbuquois dysplasia-1 (DBQD1) is caused by homozygous or compound heterozygous mutation in the CANT1 gene on chromosome 17q25. (OMIM)
Desbuquois Dysplasia 2  

Synonyms
Exact Synonyms: DBQD1
Primary IDs: MIM:251450

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