SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE

Craniofacial
Bilateral posterior subcapsular cataracts
Depressed nasal bridge
Frontal bossing
Hypoplasia of face
Macrocephaly, relative 
Small nose
Upturned nose
General
A subgroup of patients with sponastrime dysplasia have severe mental retardation
Name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)
Growth
Short stature
Short-limb dwarfism 
Hematologic
Hypogammaglobulinemia
Ocular
Hypertelorism 
Oral
Dental abnormalities
Performance
Mental retardation
Respiratory
Laryngotracheomalacia 
Skeletal
Biconcave vertebral bodies (later childhood)
Coxa vara
Decreasing lumbar vertebrae interpediculate distance 
Delayed bone age 
Delayed carpal bone ossification
Flattened capital femoral epiphyses
Hypoplastic epiphyses
Irregular metaphyses 
Kyphoscoliosis
Limited elbow extension 
Lumbar lordosis, increased
Metaphyseal striations
Mild mesomelia
Osteopenia
Platyspondyly 
Relative increase in anterior vertebral body height
Thoracic kyphosis 
Thorax
Subglottic stenosis