Terminology Service for NFDI4Health
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
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http://snomed.info/id/766821006
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may be lethal.
Term info
Label
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
Synonyms
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
Term relations
Subclass of:
- Multiple malformation syndrome with facial-limb defects as major feature (disorder)
- Chondrocalcinosis (disorder)
- Spondyloepimetaphyseal disorder (disorder)
- Longitudinal deficiency of limb (disorder)
- Osteochondropathy (disorder)
- Hereditary disorder of musculoskeletal system (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Congenital anomaly of cartilage (disorder)
- Connective tissue hereditary disorder (disorder)
- Developmental hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Spondyloepimetaphyseal disorder (disorder) and Multiple malformation syndrome with facial-limb defects as major feature (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Abnormally short growth (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Entire limb (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Pathologic calcification, calcified structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Cartilage structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) 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)) and Role group (attribute) some (
Associated morphology (attribute) some Morphologically abnormal structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Face structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))