Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome(SEMDAD)

MedGen UID:: 356550
•Concept ID:: C1866507
•: Disease or Syndrome

Synonym:	Spondyloepimetaphyseal dysplasia with abnormal dentition
SNOMED CT:	Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (773302000)

Monarch Initiative:	MONDO:0011124
OMIM®:	601668
Orphanet:	ORPHA168451

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. [from SNOMEDCT_US]

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GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSpondyloepimetaphyseal dysplasia-abnormal dentition syndrome

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Skeletal dysplasia
        Spondyloepiphyseal dysplasia
        Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

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Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome(SEMDAD)

Definition

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