Maladies associant une fermeture précoce des sutures crâniennes à d'autres signes, notamment les syndromes d'Apert, de Crouzon, de Pfeiffer, de Muenke et de Saethre-Chotzen, causées par des gènes tels que FGFR2, FGFR3, FGFR1, TWIST1, TCF12 et ERF.
Ce que change un diagnostic
Un diagnostic précoce permet une chirurgie au bon moment et un suivi de la croissance du crâne, de la vision et de l'audition ; les formes plus légères, comme le syndrome de Muenke, peuvent passer inaperçues chez l'adulte, ce qui est important pour la planification familiale.
Gènes analysés
Également connu sous le nom de
syndrome associated with craniosynostosis
Inclut 69 sous-types associés ↓Masquer les sous-types ↑
- acrocephalopolydactyly
- acrocephalopolysyndactyly
- acrocephalosyndactyly
- Antley-Bixler syndrome
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- Apert syndrome
- autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Baller-Gerold syndrome
- Bazopoulou Kyrkanidou syndrome
- Beare-Stevenson cutis gyrata syndrome
- C syndrome
- cardiocranial syndrome, Pfeiffer type
- Carpenter syndrome
- cloverleaf skull-asphyxiating thoracic dysplasia syndrome
- cloverleaf skull-multiple congenital anomalies syndrome
- cote katsantoni syndrome
- cranioectodermal dysplasia
- cranioectodermal dysplasia 1
- cranioectodermal dysplasia 2
- cranioectodermal dysplasia 3
- cranioectodermal dysplasia 4
- cranioectodermal dysplasia 5
- cranioectodermal dysplasia 6
- craniomicromelic syndrome
- craniosynostosis 2
- craniosynostosis 4
- craniosynostosis and dental anomalies
- craniosynostosis-anal anomalies-porokeratosis syndrome
- craniosynostosis-cataract syndrome
- craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- craniosynostosis-fibular aplasia syndrome
- craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- craniosynostosis-intracranial calcifications syndrome
- craniosynostosis, Herrmann-Opitz type
- craniosynostosis, Philadelphia type
- craniotelencephalic dysplasia
- Crouzon syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Curry-Jones syndrome
- familial scaphocephaly syndrome
- familial scaphocephaly syndrome, McGillivray type
- FGFR1-related Pfeiffer syndrome
- FGFR2-related Pfeiffer syndrome
- Goodman syndrome
- holoprosencephaly-craniosynostosis syndrome
- Hunter-McAlpine craniosynostosis
- Jackson-Weiss syndrome
- lethal occipital encephalocele-skeletal dysplasia syndrome
- Lowry-MacLean syndrome
- Maroteaux Fonfria syndrome
- MEGF8-related Carpenter syndrome
- Muenke syndrome
- osteosclerosis-developmental delay-craniosynostosis syndrome
- Pfeiffer syndrome
- Pfeiffer syndrome type 1
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- pseudoaminopterin syndrome
- RAB23-related Carpenter syndrome
- Saethre-Chotzen syndrome
- Sakati-Nyhan syndrome
- short-rib thoracic dysplasia 16 with or without polydactyly
- Shprintzen-Goldberg syndrome
- Summitt syndrome
- TCF12-related craniosynostosis
- trigonocephaly-broad thumbs syndrome
- Weiss-Kruszka syndrome
- X-linked intellectual disability-plagiocephaly syndrome
