Polydactyly of a triphalangeal thumb

Orpha code: 93336OMIM code: 174500

Definition

Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).

Disease data
Classification

Morphological anomaly

Synonyms
PPD2
Polidaktylia przedosiowa typu 2
PPD2
Preaxial polydactyly type 2
ORPHA code
93336
OMIM code
174500
ICD10 code
Q69.1
ICD11 code
-

No additional description.

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