Question: What are the symptoms of Teebi Naguib Al Awadi syndrome ?
Answer: What are the signs and symptoms of Teebi Naguib Al Awadi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Naguib Al Awadi 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 fibula 90% Abnormality of the fingernails 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Absent ulna 90% Aplasia/hypoplasia of the femur 90% Bowing of the long bones 90% Fibular aplasia 90% Micromelia 90% Oligodactyly (feet) 90% Oligodactyly (hands) 90% Short foot 90% Short stature 90% Split foot 90% Split hand 90% Aplasia/Hypoplasia involving the carpal bones 75% Aplasia/Hypoplasia involving the metacarpal bones 75% Aplasia/Hypoplasia of metatarsal bones 75% Aplasia/Hypoplasia of the phalanges of the hand 75% Aplasia/Hypoplasia of the phalanges of the toes 75% Aplasia/Hypoplasia of the tarsal bones 75% Disproportionate short stature 75% Elbow ankylosis 75% Elbow flexion contracture 75% Humeroradial synostosis 75% Hypoplasia of the radius 75% Phocomelia 75% Radial bowing 75% Abnormality of female internal genitalia 50% Aplasia/Hypoplasia of the pubic bone 50% Aplasia/Hypoplasia of the radius 50% Femoral bowing 50% Intrauterine growth retardation 50% Short neck 50% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hip dislocation 7.5% Hydrops fetalis 7.5% Hypoplasia of penis 7.5% Meningocele 7.5% Short nose 7.5% Skull defect 7.5% Talipes 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% Aplasia of the uterus 5% Occipital meningocele 5% Anteriorly displaced genitalia 4/5 Barrel-shaped chest 2/3 Cryptorchidism 2/3 Long face 2/3 Prominent sternum 2/3 Broad clavicles 3/5 Broad neck 3/5 Broad ribs 3/5 Scrotal hypoplasia 1/3 Anonychia - Aplastic pubic bones - Autosomal recessive inheritance - Carpal bone aplasia - Congenital pseudoarthrosis of the clavicle - Decreased calvarial ossification - Epicanthus - Hemivertebrae - High palate - Hypoplastic nipples - Hypospadias - Long ear - Low-set ears - Narrow palate - Pectus carinatum - Pilonidal sinus - Wide nasal bridge - 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