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Craniosynostosis is defined in the packet as the premature fusion of one or more cranial sutures, leading to secondary distortion of skull shape and skull deformities with a variable presentation. The definition states that it may occur in an isolated setting or as part of a syndrome. Listed synonyms include craniosynostosis syndrome and premature closure of cranial sutures. The packet lists numerous subtypes, including isolated craniosynostosis, non-syndromic forms named by the sutures involved, and named syndromic entries. Prevalence is recorded as unknown in this packet. The condition is cross-referenced in Orphanet (Orphanet:1531) and GARD (GARD:6209).
The packet has no structured phenotype list (phenotype count 0) and no age-of-onset data. The only clinical description available is the definition, which characterizes the condition as skull deformity of variable presentation resulting from premature suture fusion. Further symptom detail is not certified in this packet.
The packet lists no genes, inheritance patterns, or molecular mechanism for craniosynostosis, so its genetic basis is not established in this packet and no genes are named. The subtype list includes entries labeled autosomal dominant and autosomal recessive craniosynostosis, but the packet does not certify an inheritance pattern for the condition as a whole.
The packet does not certify diagnostic criteria, testing methods, or newborn screening status for craniosynostosis. One listed clinical trial is titled as a study of ocular characteristics in patients with craniosynostosis, but the packet does not describe diagnostic procedures.
Treatment coverage is not certified in this packet: it contains no FDA-approved treatment records, no orphan drug records, and no GeneReviews management text. Several listed trial titles refer to surgical or perioperative topics, such as frontal reconstruction for metopic craniosynostosis, but the packet does not describe an established treatment approach.
6 trials found
Prognosis is not certified in this packet. No natural history or clinical course information is provided beyond the definition.
The packet lists six active ClinicalTrials.gov records and details five: NCT07837453 (NOT_YET_RECRUITING; Assiut University; frontal reconstruction for moderate metopic craniosynostosis; 2026-10-01 to 2029-10-01); NCT07657598 (RECRUITING; Muzaffer GENCER; Pleth Variability Index use in pediatric craniosynostosis surgery; 2024-08-01 to 2028-02-01); NCT02229968 (phase 2, ACTIVE_NOT_RECRUITING; Children's National Research Institute; Amicar in children having craniofacial surgery; 2014-10-01 to 2028-03-01); NCT06928727 (RECRUITING; Centre Hospitalier Universitaire, Amiens; ocular characteristics in craniosynostosis; 2025-04-04 to 2026-11-01); and NCT03025763 (ACTIVE_NOT_RECRUITING; Icahn School of Medicine at Mount Sinai; a research network on craniosynostosis; 2015-01-13 to 2028-01-31).
The research digest classifies 280 publications, most commonly epidemiology or natural history. Patient organizations listed are AmeriFace, Children's Craniofacial Association (CCA), Cranio Care Bears, and Headlines - Craniofacial Support Group.
Data assembled from 4 of 12 sources · Last updated Nov 3, 2026, 1:48 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning craniosynostosis
Updated Aug 12, 2026
New research highlights the role of Pdgfrα in regulating lambdoid suture morphogenesis through chondrocyte programs. This discovery could have implications for understanding craniosynostosis and related conditions.
New research expands the phenotypic spectrum of ZIC1 variants, linking them to a neurodevelopmental disorder that can present with or without craniosynostosis. This study enhances understanding of the genetic underpinnings of this condition.