Topic: Robinow syndrome
Question: What are the symptoms of Robinow syndrome ?
Answer: What are the signs and symptoms of Robinow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow 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) Short stature 97% Anteverted nares 95% Short nose 95% Abnormality of dental morphology 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Dental malocclusion 90% Downturned corners of mouth 90% Hypertelorism 90% Hypoplasia of penis 90% Malar flattening 90% Micromelia 90% Short distal phalanx of finger 90% Vertebral segmentation defect 90% Wide mouth 90% Small hand 84% Depressed nasal bridge 78% Bifid tongue 59% Long eyelashes 59% High palate 52% Abnormality of female external genitalia 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Abnormality of the ribs 50% Abnormality of thumb phalanx 50% Cryptorchidism 50% Elbow dislocation 50% Epicanthus 50% Frontal bossing 50% Gingival overgrowth 50% Hearing impairment 50% Kyphosis 50% Long palpebral fissure 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Otitis media 50% Pectus excavatum 50% Preaxial foot polydactyly 50% Proptosis 50% Scoliosis 50% Tented upper lip vermilion 50% Umbilical hernia 50% Upslanted palpebral fissure 50% Narrow palate 46% Low-set ears 45% Retrognathia 44% Nail dysplasia 35% Oral cleft 35% Rhizomelia 35% Short neck 31% Abnormality of the aorta 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the tricuspid valve 7.5% Alopecia 7.5% Atria septal defect 7.5% Blue sclerae 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Increased number of teeth 7.5% Multicystic kidney dysplasia 7.5% Pectus carinatum 7.5% Ptosis 7.5% Recurrent respiratory infections 7.5% Reduced number of teeth 7.5% Sacral dimple 7.5% Sandal gap 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Split hand 7.5% Strabismus 7.5% Synostosis of carpal bones 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Absent uvula - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal dominant inheritance - Autosomal recessive inheritance - Bifid distal phalanx of toe - Broad thumb - Broad toe - Clinodactyly - Clitoral hypoplasia - Delayed cranial suture closure - Delayed eruption of permanent teeth - Delayed eruption of teeth - Delayed skeletal maturation - Dental crowding - Duplication of the distal phalanx of hand - Flat face - Hydronephrosis - Hypoplasia of midface - Hypoplastic labia majora - Hypoplastic sacrum - Inguinal hernia - Intellectual disability - Macroglossia - Mesomelia - Micropenis - Missing ribs - Nevus flammeus - Posteriorly rotated ears - Radial deviation of finger - Renal duplication - Rib fusion - Right ventricular outlet obstruction - Short hard palate - Short middle phalanx of the 5th finger - Short palm - Thoracic hemivertebrae - Thoracolumbar scoliosis - Triangular mouth - Vertebral fusion - Wide anterior fontanel - 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)