Synonyms

Desbuquois syndrome

OrphaNet reference

Desbuquois syndrome 

Subtypes

Desbuquois dysplasia other variants with or without accessory ossification center

Desbuquois dysplasia with accessory ossification center in digit 2

Desbuquois dysplasia with short metacarpals and elongated phalanges

May Cause

Absent thumb

Advanced bone age in a newborn

Broad tubular bones

Cervical kyphosis

Clubfoot

Congenital foot deformity

Congenital joint subluxation

Coronal cleft vertebrae

Coxa valga

Delta phalanx

Exostosis

Hypoplastic thumb

Joint laxity

Joint subluxation

Metatarsus adductus

Rhizomelic limb shortness

Short first metacarpal

Short metacarpal

Short metatarsal

Short metatarsals

Short thumb

Thick ribs

Vertebral coronal cleft

Wide metaphysis