Question: What are the symptoms of Antley Bixler syndrome ?
Answer: What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler syndrome. 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 pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Camptodactyly of finger 90% Frontal bossing 90% Humeroradial synostosis 90% Hypoplasia of the zygomatic bone 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Narrow chest 90% Short nose 90% Abnormality of the urinary system 50% Choanal atresia 50% Craniosynostosis 50% Proptosis 50% Cleft palate 7.5% Hypertelorism 7.5% Long philtrum 7.5% Narrow mouth 7.5% Recurrent fractures 7.5% Strabismus 7.5% Talipes 7.5% Underdeveloped supraorbital ridges 7.5% Abnormal renal morphology - Abnormalities of placenta or umbilical cord - Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Abnormality of the endocrine system - Abnormality of the pinna - Arnold-Chiari malformation - Atria septal defect - Autosomal recessive inheritance - Bifid scrotum - Brachycephaly - Bronchomalacia - Camptodactyly - Carpal synostosis - Choanal stenosis - Chordee - Clitoromegaly - Cloverleaf skull - Conductive hearing impairment - Coronal craniosynostosis - Cryptorchidism - Depressed nasal bridge - Femoral bowing - Fused labia minora - Hemivertebrae - Horseshoe kidney - Hydrocephalus - Hypoplasia of midface - Hypoplastic labia majora - Hypospadias - Intellectual disability - Joint contracture of the hand - Labial hypoplasia - Lambdoidal craniosynostosis - Laryngomalacia - Low maternal serum estriol - Malar flattening - Maternal virilization in pregnancy - Microcephaly - Micropenis - Narrow pelvis bone - Oligohydramnios - Polycystic ovaries - Radioulnar synostosis - Rocker bottom foot - Scoliosis - Scrotal hypoplasia - Small for gestational age - Stenosis of the external auditory canal - Tarsal synostosis - Ulnar bowing - Upper airway obstruction - Vaginal atresia - Vesicovaginal fistula - Wide anterior fontanel - 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