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Pseudoepiphyses of the middle phalanges of the hand

MedGen UID:
869509
•Concept ID:
C4023937
•
Anatomical Abnormality
HPO: HP:0010264

Definition

A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [from HPO]

Conditions with this feature

Boudin-Mortier syndrome
MedGen UID:
1794202
•Concept ID:
C5561992
•
Disease or Syndrome
Boudin-Mortier syndrome (BOMOS) is characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses. Some patients also show joint hypermobility and dilation of the aortic root (Boudin et al., 2018). Mutation in the NPR2 gene (108961) results in a similar phenotype of increased stature and elongation of the digits, particularly of the great toes, with multiple extra epiphyses (epiphyseal chondrodysplasia, Miura type; 615923).
See: Condition Record
Boudin-Mortier syndrome

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