Question: What are the symptoms of Stuve-Wiedemann syndrome ?
Answer: What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann 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 autonomic nervous system 90% Feeding difficulties in infancy 90% Hyperhidrosis 90% Hypohidrosis 90% Micromelia 90% Paresthesia 90% Short stature 90% Skeletal dysplasia 90% Apnea 50% Asthma 50% Camptodactyly of toe 50% Genu valgum 50% Impaired pain sensation 50% Intrauterine growth retardation 50% Lacrimation abnormality 50% Oligohydramnios 50% Recurrent fractures 50% Respiratory insufficiency 50% Scoliosis 50% Talipes 50% Hypothyroidism 7.5% Muscular hypotonia 7.5% Sacral dimple 7.5% Abnormal metaphyseal trabeculation - Abnormality of dental enamel - Absent patellar reflexes - Adducted thumb - Autosomal recessive inheritance - Blotching pigmentation of the skin - Broad ischia - Contracture of the proximal interphalangeal joint of the 5th finger - Dysautonomia - Dysphagia - Elbow flexion contracture - Episodic fever - Feeding difficulties - Femoral bowing - Flared metaphysis - Frontal bossing - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac body - Knee flexion contracture - Low-set ears - Malar flattening - Metaphyseal rarefaction - Myotonia - Nasal speech - Opacification of the corneal stroma - Osteoporosis - Pathologic fracture - Pulmonary arterial medial hypertrophy - Pulmonary hypertension - Pulmonary hypoplasia - Pursed lips - Short neck - Short nose - Short palpebral fissure - Short phalanx of finger - Short tibia - Single transverse palmar crease - Smooth tongue - Square face - Talipes valgus - Thickened cortex of long bones - Thin ribs - Thin skin - Tibial bowing - Ulnar deviation of finger - Wide nasal base - 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