Question: What are the symptoms of Short rib-polydactyly syndrome type 4 ?
Answer: What are the signs and symptoms of Short rib-polydactyly syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 4. 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 pinna - Anencephaly - Ascites - Atelectasis - Autosomal recessive inheritance - Bowing of the arm - Bowing of the legs - Broad foot - Broad palm - Cystic renal dysplasia - Edema - Epicanthus - Flat face - Hamartoma of tongue - Hepatomegaly - High forehead - Holoprosencephaly - Horizontal ribs - Hydrocephalus - Hypertelorism - Hypoplastic nipples - Hypoplastic scapulae - Inguinal hernia - Intestinal malrotation - Intrauterine growth retardation - Limb undergrowth - Lobulated tongue - Low-set ears - Macrocephaly - Median cleft lip and palate - Narrow chest - Natal tooth - Neonatal death - Omphalocele - Patent ductus arteriosus - Patent foramen ovale - Periportal fibrosis - Polyhydramnios - Posteriorly rotated ears - Protuberant abdomen - Pulmonary hypoplasia - Renal hypoplasia - Respiratory insufficiency - Short finger - Short foot - Short long bone - Short neck - Short palm - Short ribs - Short thorax - Short toe - Splenomegaly - Thoracic dysplasia - Ventricular septal defect - Wide intermamillary distance - 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