OrphaNet reference

Pseudodiastrophic dysplasia 

May Cause

Arthropathy

Blue sclerae

Camptodactyly

Cervical kyphosis

Cleft lip/palate

Clubfoot

Congenital foot deformity

Congenital joint subluxation

Congenitally limited joint mobility

Elongated clavicle

External ear malformation

Flaring of ribs

Hydrocephalus

Joint subluxation

Lethal skeletal dysplasia

Limited joint mobility

Metatarsus adductus

Platyspondyly

Rhizomelic dwarfism

Rhizomelic limb shortness

Short metacarpal

Short metatarsal

Short ribs

Symmetrical anterior rib flaring