Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder)
Go to external page
http://snomed.info/id/773693005
A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15.
Term info
Label
Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder)
Synonyms
- Spondylo-megaepiphyseal-metaphyseal dysplasia
database cross reference
- CTV3:XV7dX
- ICD-10:Q77.7
- ORPHANET:228387
Term relations
Subclass of:
- Spondyloepimetaphyseal disorder (disorder)
- Hereditary disorder of musculoskeletal system (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Developmental hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Spondyloepimetaphyseal disorder (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Dysplasia (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Bone structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))