Topic: Acroosteolysis dominant type
Question: What are the symptoms of Acroosteolysis dominant type ?
Answer: What are the signs and symptoms of Acroosteolysis dominant type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acroosteolysis dominant 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) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Brachydactyly syndrome 90% Decreased skull ossification 90% Hypertelorism 90% Long philtrum 90% Osteolysis 90% Periodontitis 90% Reduced bone mineral density 90% Short distal phalanx of finger 90% Short toe 90% Telecanthus 90% Thick eyebrow 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Anteverted nares 50% Arnold-Chiari malformation 50% Arthralgia 50% Bone pain 50% Coarse facial features 50% Dental malocclusion 50% Dolichocephaly 50% Downturned corners of mouth 50% Full cheeks 50% Hearing impairment 50% Joint hypermobility 50% Macrocephaly 50% Narrow mouth 50% Prominent occiput 50% Scoliosis 50% Short neck 50% Thin vermilion border 50% Abnormality of the aortic valve 7.5% Abnormality of the voice 7.5% Bowing of the long bones 7.5% Cataract 7.5% Cleft palate 7.5% Clubbing of toes 7.5% Coarse hair 7.5% Craniofacial hyperostosis 7.5% Displacement of the external urethral meatus 7.5% Dry skin 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hypoplasia of the zygomatic bone 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Kyphosis 7.5% Low anterior hairline 7.5% Low-set, posteriorly rotated ears 7.5% Migraine 7.5% Mitral stenosis 7.5% Myopia 7.5% Neurological speech impairment 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Pectus carinatum 7.5% Peripheral neuropathy 7.5% Polycystic kidney dysplasia 7.5% Recurrent fractures 7.5% Recurrent respiratory infections 7.5% Skin ulcer 7.5% Splenomegaly 7.5% Synophrys 7.5% Syringomyelia 7.5% Thickened skin 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Juvenile onset - Osteolytic defects of the phalanges 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)