Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

Orpha code: 168451OMIM code: 601668

Definition

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is 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.

Disease data
Classification

Disease

ORPHA code
168451
OMIM code
601668
ICD10 code
Q77.7
ICD11 code
LD24.3

No additional description.

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