Desbuquois dysplasia

Classification

• type 1: presence of hand anomalies (see Radiology)
• type 2: absencce of hand anomailies

Genetics

• associated with defects in CANT1

Clinical manifestations

• severe prenatal & postnatal growth retardation (< -5 SD)
• joint laxity
• short extremities
• progressive scoliosis
• round face
• midface hypoplasia
• prominent bulging eyes

Radiology

• radiographs show
  • short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), & advance carpal & tarsal bone age
  • characteristic hand anomalies: (type 1)
    • an extra ossification center distal to the 2nd metacarpal, delta phalanx, bifid distal thumb phalanx, & phalangeal dislocations

More general terms

• osteochondrodysplasia

Database

• OMIM: https://mirror.omim.org/entry/251450