Overview
Crisponi syndrome is a rare autosomal recessive disorder characterized by episodic facial muscle contractions (trismus), hyperthermia, feeding difficulties, distinctive facial features (large face, broad nose, anteverted nares), camptodactyly, and often fatal outcomes in early infancy 123.Diagnosis
Clinical Criteria: Episodic facial muscle contractions, hyperthermia, feeding difficulties, characteristic facial dysmorphism (large face, broad nose, anteverted nares), camptodactyly 123.
Genetic Testing: Identification of pathogenic variants in the CRLF1 gene, particularly in the signal peptide domain, immunoglobulin-like, and type III fibronectin domains 123.
Differential Diagnosis: Distinguishing from tetanus and other infective conditions is crucial 1.Management
Supportive Care: Focus on managing hyperthermia, respiratory distress, and feeding difficulties 4.
Respiratory Support: Polysomnography may be indicated to assess obstructive breathing patterns during paroxysmal episodes 4.
Developmental Monitoring: Regular assessments for developmental delays, especially in surviving patients 4.Special Populations
Pediatrics: Early recognition and supportive care are critical due to high mortality rates in infancy 1234.
Developmental Impact: Survivors often exhibit developmental delays 4.Key Recommendations
Genetic Testing for CRLF1 Mutations: Confirm diagnosis through genetic analysis of the CRLF1 gene (Evidence: Strong 123).
Early Supportive Care: Implement aggressive supportive measures for hyperthermia, respiratory distress, and feeding issues (Evidence: Moderate 4).
Developmental Surveillance: Regularly monitor developmental milestones in surviving patients (Evidence: Expert opinion 4).References
1 A R, Chandran S, Ghatak AR, Thomas N, Danda S. Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome. Indian journal of pediatrics 2022. link
2 Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M et al.. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. American journal of human genetics 2007. link
3 Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G et al.. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. American journal of human genetics 2007. link
4 Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC. Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. American journal of medical genetics. Part A 2005. link