Synonyms

SEMD

Subtypes

Spondyloepimetaphyseal dysplasia Aggrecan type

Spondyloepimetaphyseal dysplasia Iraqi type

Spondyloepimetaphyseal dysplasia Matrilin type

Spondyloepimetaphyseal dysplasia Missouri type

Spondyloepimetaphyseal dysplasia PAPSS2 type

Spondyloepimetaphyseal dysplasia with joint laxity

May Cause

Abnormal odontoid process

Anisospondyly

Bowed bones

Cataract

Congenital coxa vara

Congenital short hands and feet

Congenital vertebral abnormality

Congenitally limited joint mobility

Degenerative joint changes

Elongation of fibula

Generalized small epiphyses

Genu varum

Hypoplastic pelvis

Joint laxity

Joint subluxation

Kyphoscoliosis

Late-onset dwarfism

Limited joint mobility

Malformed patella

Metaphyseal irregularity

Metaphyseal sclerosis

Platyspondyly

Retarded skeletal maturation

Rhizomelic dwarfism

Rhizomelic limb shortness

Round vertebrae

Short foot

Short hand

Short metacarpal

Short metatarsal

Short ribs

Small acetabular angle

Transverse dense metaphyseal bands

Type A pelvis

May Be Caused by

Spondyloepimetaphyseal dysplasia - abnormal dentition

Spondyloepimetaphyseal dysplasia - hypotrichosis