Synonyms

Spondyloepiphyseal dysplasia congenital

OrphaNet reference

Spondyloepiphyseal dysplasia congenita 

Is A

Spondyloepiphyseal dysplasia

May Cause

Abnormal odontoid process

Anterior beaked vertebrae in a child

Arthropathy

Atlantoaxial instability

Cleft lip/palate

Congenital atlantoaxial subluxation or instability

Congenitally abnormal pelvis

Coxa vara

Decreased muscle mass

Defective pubic ossification

Delayed ossification of the pubic bone

Dense epiphyses of hands and feet

Fragmented, irregular, or sclerotic carpal or tarsal bones

Genu valgum

Genu varum

Hypertelorism

Hypoplastic pelvis

Joint subluxation

Lethal skeletal dysplasia

Macrocephaly

Myopia

Odontoid aplasia

Odontoid hypoplasia

Pectus carinatum

Platyspondyly

Pubic bone nonossification

Retinal detachment

Retinopathy

Round vertebrae

Short narrow thoracic cage

Short ribs

Skull base hypoplasia

Small acetabular angle

Symmetrical anterior rib flaring

Thoracic dysplasia

Type A pelvis

Wide metaphysis