Topic: Gordon syndrome
Question: What are the symptoms of Gordon syndrome ?
Answer: What are the signs and symptoms of Gordon syndrome? Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. The range and severity of features in affected individuals can vary. Most infants with Gordon syndrome have several fingers that are permanently fixed in a flexed position (camptodactyly), which may result in limited range of motion and compromised manual dexterity. Affected infants may also have clubfoot. Approximately 20-30% have cleft palate (incomplete closure of the roof of the mouth). Other signs and symptoms in some individuals may include a bifid uvula (abnormal splitting of the soft hanging tissue at the back of the throat); short stature; dislocation of the hip; abnormal backward curvature of the upper spine (lordosis); and/or kyphoscoliosis. In addition, some affected individuals may have drooping of the eyelids (ptosis); epicanthal folds; syndactyly (webbing of the fingers and/or toes); abnormal skin patterns on the hands and feet (dermatoglyphics); and/or a short, webbed neck (pterygium colli). Some affected males have undescended testes (cryptorchidism). Cognitive development is typically normal. The Human Phenotype Ontology provides the following list of signs and symptoms for Gordon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 90% Talipes 90% Skeletal muscle atrophy 50% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Limitation of joint mobility 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short stature 7.5% Ophthalmoplegia 5% Abnormality of the rib cage - Autosomal dominant inheritance - Bifid uvula - Camptodactyly of toe - Congenital hip dislocation - Cutaneous finger syndactyly - Decreased hip abduction - Distal arthrogryposis - Down-sloping shoulders - Epicanthus - High palate - Knee flexion contracture - Kyphoscoliosis - Lumbar hyperlordosis - Overlapping toe - Ptosis - Short neck - Short phalanx of finger - Single transverse palmar crease - Submucous cleft hard palate - Talipes equinovarus - Thoracolumbar scoliosis - Ulnar deviation of the hand or of fingers of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)