What are the symptoms of Craniosynostosis, anal anomalies, and porokeratosis ?
What are the signs and symptoms of Craniosynostosis, anal anomalies, and porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis, anal anomalies, and porokeratosis. 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 clavicle 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Hyperkeratosis 90% Urogenital fistula 90% Cognitive impairment 50% Ectopic anus 50% Hearing impairment 50% Malar flattening 50% Proptosis 50% Thick lower lip vermilion 50% Wide mouth 50% Cleft palate 7.5% Kyphosis 7.5% Anal atresia - Autosomal recessive inheritance - Brachycephaly - Coronal craniosynostosis - Delayed cranial suture closure - Ectropion - Hypoplasia of midface - Hypospadias - Lambdoidal craniosynostosis - Parietal foramina - Porokeratosis - Ptosis - Rectovaginal fistula - Sagittal craniosynostosis - Sensorineural hearing impairment - Short clavicles - Short ribs - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - 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.