Topic: Congenital contractural arachnodactyly
Question: What are the symptoms of Congenital contractural arachnodactyly ?
Answer: What are the signs and symptoms of Congenital contractural arachnodactyly? Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm span exceeding height), arachnodactyly (long slender fingers and toes), 'crumpled' ears, contractures of major joints from birth (particularly knees, elbows, fingers, toes, and hips), bowed long bones, muscular hypoplasia (underdeveloped muscles), kyphosis/scoliosis, aortic root dilation, and various craniofacial abnormalities (such as micrognathia, high arched palate, scaphocephaly (premature fusion of the sagittal suture of the skull leading to a long, narrow head), brachycephaly (premature fusion of the coronal suture, leading to a short skull), and frontal bossing).  At the most severe end of the spectrum is a rare type with very few reported cases. In addition to the typical skeletal findings (arachnodactyly, joint contractures, scoliosis) and abnormally shaped ears, infants with the severe/lethal form have multiple cardiovascular and gastrointestinal abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital contractural arachnodactyly. 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) Abnormality of the helix 90% Abnormality of the palate 90% Arachnodactyly 90% Camptodactyly of finger 90% Disproportionate tall stature 90% External ear malformation 90% Elbow flexion contracture 86% Knee flexion contracture 81% Crumpled ear 78% Kyphoscoliosis 45% Talipes equinovarus 32% Hip contracture 25% Abnormality of the mitral valve 7.5% Aortic dilatation 7.5% Duodenal stenosis 7.5% Ectopia lentis 7.5% Intestinal malrotation 7.5% Tracheoesophageal fistula 7.5% Adducted thumb - Aortic root dilatation - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Brachycephaly - Calf muscle hypoplasia - Congenital kyphoscoliosis - Distal arthrogryposis - Dolichocephaly - Frontal bossing - High palate - Mitral regurgitation - Mitral valve prolapse - Motor delay - Myopia - Osteopenia - Patellar dislocation - Patellar subluxation - Patent ductus arteriosus - Pectus carinatum - Short neck - Ulnar deviation of finger - Ventricular septal defect - 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)