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1.

Boudin-Mortier 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). [from OMIM]

MedGen UID:
1794202
Concept ID:
C5561992
Disease or Syndrome
2.

Mallet finger

Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. [from HPO]

MedGen UID:
510551
Concept ID:
C0158473
Acquired Abnormality

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