Chudley-Mccullough syndrome
Overview
A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
Symptoms
* Absent thumbs * Underdeveloped thumbs * Triphalangeal thumbs * Split thumbs * Syndactyly * Phocomelia * Absence of first metacarpal * Absence of radius * Underdeveloped first metacarpal * Underdeveloped radius * Ulna defects * Humerus defects * Clavicle defects * Scapula defects * Sternum defects * Reduced range of elbow motion * Reduced range of shoulder motion * Narrow shoulders * Sloping shoulders * Carpal abnormalities * Underdeveloped scaphoid * Finger like thumb * Underdeveloped forearm * Ostium secundum atrial septal defect * Arrhythmia * Ventricular septal defect * Congenital heart defects * Underdeveloped arm blood vessels * Underdeveloped leg blood vessels * Carpal bone (wrist) abnormality * Missing thumb * Finger-like thumb * Partial absence of forearm bones * Complete absence of forearm bones * Underdeveloped upper arm bone * Collar bone abnormalities * Shoulder blade abnormality * Heart septum defect * Atrial septal defects * Ventricle septal defects * Heart conduction disease * Slow heart rate * Heart fibrillation
Diagnosis
signs and symptoms of Holt-Oram Syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Holt-Oram Syndrome symptoms.
Resources
Chudley-Mccullough syndrome: Another name for Holt-Oram Syndrome