An extremely rare developmental disorder characterized by bilateral congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus distal portion of the tibial diaphysis aplasia of the radius ulna fibula) and aplasia of hands and feet (aplasia of carpal metacarpal tarsal metatarsal and phalangeal bones). Rarely an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.