Diastrophic dysplasia | Gamuts.net

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

Accessory carpal or tarsal bones

Accessory epiphyses

Acromelic dwarfism

Advanced bone age

Anterior beaked vertebrae in a child

Atlantoaxial instability

Bowed tubular bones

Carpal and/or tarsal 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

Cuboid vertebrae

Dislocated patella

Dumbbell-shaped tubular bones

Ear cartilage calcification

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

Laryngeal anomaly

Lethal skeletal dysplasia

Limited joint mobility

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

Pseudoepiphyses

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 metacarpal

Short metatarsal

Short metatarsals

Short narrow thoracic cage

Short proximal phalanx

Short squat bones

Skull base hypoplasia

Small foramen magnum

Small or dysplastic carpal and/or tarsal bones

Synostosis of tubular bones

Thoracic dysplasia

Tubular bone synostosis

Wide metaphysis

OrphaNet reference

Diastrophic dwarfism

May Cause

Abnormal odontoid process

Abnormal sternum

Accessory carpal or tarsal bones

Accessory epiphyses

Acromelic dwarfism

Advanced bone age

Anterior beaked vertebrae in a child

Atlantoaxial instability

Bowed tubular bones

Carpal and/or tarsal 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

Cuboid vertebrae

Dislocated patella

Dumbbell-shaped tubular bones

Ear cartilage calcification

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

Laryngeal anomaly

Lethal skeletal dysplasia

Limited joint mobility

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

Pseudoepiphyses

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 metacarpal

Short metatarsal

Short metatarsals

Short narrow thoracic cage

Short proximal phalanx

Short squat bones

Skull base hypoplasia

Small foramen magnum

Small or dysplastic carpal and/or tarsal bones

Synostosis of tubular bones

Thoracic dysplasia

Tubular bone synostosis

Wide metaphysis