Familial digital arthropathy-brachydactyly
David J Amor1, Coral Tudball, R J McKinlay Gardner
1Genetic Health Services Victoria, Royal Children's Hospital, Victoria, Australia. amord@cryptic.rch.unimelb.edu.au
American Journal of Medical Genetics
|March 14, 2002
Summary
Familial digital arthropathy-brachydactyly (FDAB) is a newly identified dominant inherited condition causing progressive joint disease and shortening of finger and toe bones. This condition affects the hands and feet, leading to deformity and pain.
Area of Science:
- Genetics and skeletal biology
- Orthopedics
- Rheumatology
Background:
- A large family presented with a previously undescribed inherited condition.
- The condition involves progressive arthropathy and brachydactyly of the hands and feet.
Purpose of the Study:
- To describe a novel dominantly inherited condition, familial digital arthropathy-brachydactyly (FDAB).
- To investigate the clinical and radiological characteristics of FDAB.
Main Methods:
- Clinical examination of affected family members.
- Radiological assessment of hands and feet.
- Analysis of inheritance patterns.
Main Results:
- FDAB is characterized by progressive arthropathy and shortening of middle and distal phalanges, beginning in the first decade.
- The condition affects only the hands and feet, with no other skeletal abnormalities.
- Radiological findings suggest subchondral pathology as the primary issue, leading to secondary arthropathy and brachydactyly.
Conclusions:
- FDAB is a distinct, dominantly inherited skeletal dysplasia.
- The primary pathology appears to be in the subchondral bone of the phalanges, metacarpals, and metatarsals.
- Further research is needed to elucidate the genetic basis and pathophysiology of FDAB.
Related Concept Videos
01:35Pedigree Analysis
Overview
01:05Desmosomes
The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
01:09Bones of the Upper Limb: Radius
The radius is longer of the two bones that make up the human antebrachium or forearm. At the proximal end, the radius articulates with the capitulum of the humerus and the radial notch of the ulna to form the elbow joint. At the distal end, the radius articulates with the ulna via the ulnar notch, forming the distal radioulnar joint. Distally, the radius also attaches to the carpal wrist bones (scaphoid and lunate) to form the radiocarpal joint.
The radius has a nail-shaped head, and a short...
The radius has a nail-shaped head, and a short...
01:30Peripheral Artery Disease I: Introduction
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...