Spondyloepimetaphyseal dysplasia Sponastrime type
Alternate names
Spondylar and nasal alterations with striated metaphyses; Sponastrime dysplasia; Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation
Definition
A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.
NIH genetic and rare disease info
Spondyloepimetaphyseal dysplasia Sponastrime type is a rare disease.
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