Split-Hand/Foot Malformation with Long Bone Deficiency 1: A very rare condition characterized by hand and foot malformations involving clefting as well as absent or underdeveloped bones in the limbs. The manifestations of the condition are variable ranging from simply underdeveloped big toes to the absence of various long bones in the limbs. There are three subtypes of this condition which are differentiated by the origin of the genetic defect. In type 1, the genetic defect occurs on chromosome 1q42.2-q43. More detailed information about the symptoms, causes, and treatments of Split-Hand/Foot Malformation with Long Bone Deficiency 1 is available below.
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