Question: What are the symptoms of Acrofacial dysostosis Catania type ?
Answer: What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania type. 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 palate 90% Abnormality of the philtrum 90% Brachydactyly syndrome 90% Cognitive impairment 90% Finger syndactyly 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Microcephaly 90% Short nose 90% Short palm 90% Short stature 90% Abnormality of periauricular region 50% Cryptorchidism 50% Delayed skeletal maturation 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Single transverse palmar crease 50% Clinodactyly of the 5th finger 7.5% Coarse hair 7.5% Displacement of the external urethral meatus 7.5% Facial cleft 7.5% Hernia of the abdominal wall 7.5% Pectus excavatum 7.5% Premature birth 7.5% Reduced number of teeth 7.5% Spina bifida occulta 7.5% Webbed neck 7.5% 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