What Exactly Is Radial Clubhand Disorder?
Radial clubhand is a rare birth defect which is associated with a deformity of the hand. The major identifications of this defect are missing thumb and forearm is perpendicular to the wrist.
The diagnosis is usually made through physical exams but it is also done via surgical reconstruction when the child’s age is around 6 months.
Epidemiology Of This Defect
This defect is quite rare with chances of occurrence as 1 in 100000. Majority of the time this defect occurs in the bilateral region like arms and sometimes the thumbs are deficient as well.
Etiology Of This Defect
The root cause of this defect is associated with genetics. Here are some of the genetic disorders which often accompany this Radial Club Hand defect:
TAR (Thrombocytopenia Absent Radius Syndrome)
The thrombocytopenia-absent radius (TAR) condition is defined by the absence of a bone in each forearm called the radius and a deficit (deficiency) of blood cells involved in clotting (platelets). This platelet shortage normally begins in childhood and gradually improves. It is an autosomal recessive disorder.
The only difference is that the thumb is still present in these genetic disorders.
Fanconi’s Anemia
It is also an autosomal recessive disorder which is an inherited form of aplastic anemia. Fanconi anemia is caused by a defective gene that causes cells to stop repairing damaged DNA. A person must inherit one copy of the defective gene from each parent to inherit Fanconi anemia. The disorder is most commonly diagnosed in children aged 4 to 12.
The common treatment of this disorder is bone marrow transplant.
Holt-oram Syndrome
It is an autosomal dominant condition which is usually characterized by cardiac arrest and deformities in the upper limbs of the body.
The best diagnosis of this defect is surgery but it depends on its severity, in cases of low severity medications and physical examination can also be adopted.
VACTERL Syndrome
It is another genetic disorder which is a major cause for radial clubhand disorder. This defect is characterised by vertebral anomalies, anal atersia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects.
Many of the above abnormalities are cured with help of structural surgery.
VATER Syndrome
It is similar to VACTERL syndrome but is devoid of limb defects. This defect is characterised by vertebral anomalies, anal atersia, cardiac abnormalities, tracheoesophageal fistula, and renal agenesis.
Surgery is the best way to improve these structural abnormalities.
Classification Of The Radial Clubhand Defect
Due to the various variants of this disorder led to its classification which was proposed by scientists Bayne and Klung
Type I : Characterized by Deficient distal radial epiphysis
Type II: Characterized by distal and proximal epiphysis
Type III: Characterized by partial aplasia
Type IV: Characterized by an absent thumb and total aplasia
Different Ways To Examine And Diagnosis Of The Radial Clubhand Defect
Physical Examination
Since this defect is characterized by a missing thumb and a perpendicular alignment between the wrist and the forearm, a physician should examine the elbow portion very carefully and technically.
Imaging Methods To Identify The Defect
- Laboratory: We must preorder the CBC, renal ultrasound, and echocardiogram to screen for associated conditions so that a cure is found at the earliest.
- Radiographs: This method of imaging is applied in the cases when the entire radius and sometimes thumb is missing.
Different Treatments For The Radial Clubhand Defect
This defect can be treated using both operative and non operative methods. It depends on the severity of the defect which decides which method is needed to get adopted.
Non Operative Method
This method includes passive stretching exercise which allows the radial sided structures to get tightened and easily movable without pain.
Observation also plays a key role in curing this defect as it is observed that hand deformity allows extra reach to the mouth when compared with stiff hands. Moreover it can also lead to discovery of absent elbow motion or biceps deficiency.
Operative Method — Hand Centralization
It is usually done at an age of 6 to 12 months which is followed by transfer of tendons. The best indication which confirms that the patient is ready for the operation is a good elbow motion and intact biceps.
Techniques To Perform Hand Centralization Operation
It involves resection of varying amounts of carpus and shortening of ECU along with angular osteotomy of the ulna if needed.
This operation can be done in two stages if the procedure combines a distraction external fixator and it can be further combined with thumb reconstruction when the patient is 18 months old and has a thumb deformity.
