Crisponi syndrome
Overview
Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
Symptoms
The list of signs and symptoms mentioned in various sources for Crisponi syndrome includes the 21 symptoms listed below: * Excessive muscle contractions * Increased muscle tone in neck * Large face * Chubby cheeks * Broad nose * Anteverted nostrils * Long philtrum * Camptodactyly * Feeding problems * Fever * Seizures * Psychomotor delay * Polyhyramnios * Small mouth * Small jaw * Hand clenching * Episodes of excessive salivation * Hyperthermia * Respiratory problems * Scoliosis * Episodes of apnea
Diagnosis
The phrase "signs of Crisponi syndrome" should, strictly speaking, refer only to those signs and symptoms of Crisponi syndrome that are not readily apparent to the patient. The word "symptoms of Crisponi syndrome" is the more general meaning; see symptoms of Crisponi syndrome. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Crisponi syndrome. This medical information about signs and symptoms for Crisponi syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Crisponi syndrome signs or Crisponi syndrome symptoms. Furthermore, signs and symptoms of Crisponi syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Crisponi syndrome symptoms.