Developmental Biology and Classification of Congenital Anomalies of the Hand and Upper Extremity

Molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications

“…WNT3A will then induce the expression of FGF8 in the AER and the latter helps to maintain FGF10 in the mesoderm (this is known as the FGF10-FGF8 loop). Hence, a deficiency in TBX5 is expected to result in a deficiency of ectodermal FGF8 and this will lead to phenotypes that are remarkably similar to the classification spectrum of radial ray deficiency as reviewed by Oberg et al (2010). In the second pathway (Fig.…”

Symbrachydactyly — Diagnosis, Function, and Treatment

“…A more recent classification of hand differences, the OMT (Oberg, Manske, and Tonkin), considers symbrachydactyly to be a malformation in the failure of axis formation/differentiation of the entire limb and hand plate. 7,8 Nonetheless, there remains inconsistency amongst hand surgeons on the correct classification of symbrachydactyly. 7 Symbrachydactyly has been subdivided by Blauth and Gekeler 9 into 4 types:…”

“…The fingers may have unstable interphalangeal joints but are capable of single hand prehension (Table 1). 8 …”

Classification of Congenital Anomalies of the Hand and Upper Limb

“…2 Within this framework, each condition retains the surgical terminology that is familiar to us all. Multiple anomalies, which may not be common to a diagnosis of one specific condition, may be classified under more than one diagnosis so that all information is documented (eg, syndactyly and clinodactyly occurring in the one hand).…”