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Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
rareA 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.
- Identifiers
- MONDO:0011124 OMIM:601668Orphanet:168451
- Part of
- Spondyloepimetaphyseal dysplasia
- Also known as
- SEMDAD · spondyloepimetaphyseal dysplasia with abnormal dentition
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