Diastrophic dysplasia

Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development. ("Diastrophism" is a general word referring to a twisting.) Diastrophic dysplasia is due to mutations in the SLC26A2 gene. [Source: Wikipedia ]

OrphaNet reference
Diastrophic dwarfism 
May Cause
Abnormal odontoid process
Abnormal sternum
Absent thumb
Accessory carpal or tarsal bones
Accessory epiphyses
Acromelic dwarfism
Advanced bone age
Anterior beaked vertebrae in a child
Atlantoaxial instability
Bowed bones
Bowed tubular bones
Broad thumb
Carpal and/or tarsal fusion
Carpal fusion
Cervical kyphosis
Chondral calcification
Cleft lip/palate
Cone-shaped epiphysis
Congenital abnormality of great toe
Congenital atlantoaxial subluxation or instability
Congenital coxa vara
Congenital elbow anomaly
Congenital foot deformity
Congenital heart disease
Congenital joint subluxation
Congenital narrow spinal canal
Congenital short hands and feet
Congenital short limbs
Congenital tracheal stenosis x
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally abnormal scapula
Congenitally limited joint mobility
Contracted hand
Coxa vara
Cuboid vertebrae
Cutis laxa
Dislocated patella
Dumbbell bones
Dumbbell-shaped tubular bones
Ear cartilage calcification
Ectopic thumb
Enlarged distal femoral intercondylar notch
Epiphyseal necrosis
External ear calcification
External ear malformation
Flat femoral head
Fragmented femoral head
Fragmented or irregular femoral head
Fragmented, irregular, or sclerotic carpal or tarsal bones
Frontal bossing
Generalized small epiphyses
Handlebar clavicle
Hooked clavicle
Hypoplastic patella
Hypoplastic terminal phalanges
Hypoplastic thumb
Increased carpal angle
Intracranial calcification
Irregular epiphyseal ossification centers
Irregular epiphysis
Joint subluxation
Large thumb
Laryngeal anomaly
Lethal skeletal dysplasia
Limited joint mobility
Macular stains
Malformed patella
Metaphyseal cupping
Metatarsus adductus
Multipartite patella
Multiple abnormal epiphyses
Narrow spinal canal
Odontoid aplasia
Odontoid hypoplasia
Periarticular calcification
Premature laryngeal cartilage calcification
Premature tracheobronchial cartilage calcification
Retarded skeletal maturation
Sclerotic epiphysis
Short and broad distal phalanges of hand
Short broad distal phalanx of thumb
Short first metacarpal
Short first metatarsal
Short foot
Short hand
Short metacarpal
Short metatarsal
Short metatarsals
Short narrow thoracic cage
Short proximal phalanx
Short squat bones
Short thumb
Skull base hypoplasia
Small foramen magnum
Small or dysplastic carpal and/or tarsal bones
Synostosis of tubular bones
Thick clavicle
Thin epiphyses
Thoracic dysplasia
Tubular bone synostosis
Wide metaphysis
Wide thumb