Question: What are the symptoms of Fitzsimmons-Guilbert syndrome ?
Answer: What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert 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 the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Pectus carinatum 90% Short stature 90% Abnormality of the palate 50% Abnormality of thumb phalanx 50% Finger syndactyly 50% Autosomal recessive inheritance - Babinski sign - Broad hallux - Broad thumb - Cone-shaped epiphyses of the phalanges of the hand - Decreased body weight - Dysarthria - Enuresis nocturna - Feeding difficulties in infancy - High palate - Malar flattening - Narrow face - Nasal speech - Pectus excavatum - Pes planus - Progressive spastic paraplegia - Scissor gait - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - 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