Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)
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Term information
definition
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
A rare primary bone dysplasia disorder characterised by the association of dental anomalies (oligodontia with pointed incisors) and generalised platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Term relations
Subclass of:
- Spondyloepimetaphyseal disorder (disorder)
- Oligodontia (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Oligodontia (disorder) and Spondyloepimetaphyseal disorder (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Abnormal number (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Tooth 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 Absence (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Structure of dentition (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (Interprets (attribute) some Height / growth measure (observable entity))