Tilstander som kombinerer tidlig lukking av hodeskallens sømmer med andre trekk, blant annet Apert-, Crouzon-, Pfeiffer-, Muenke- og Saethre-Chotzens syndrom, forårsaket av gener som FGFR2, FGFR3, FGFR1, TWIST1, TCF12 og ERF.
Hva en diagnose endrer
Tidlig diagnose gjør det mulig med rettidig operasjon og oppfølging av hodeveksten, synet og hørselen. Mildere former, som Muenke-syndrom, kan forbli uoppdaget hos voksne, noe som er relevant for familieplanlegging.
Analyserte gener
Også kjent som
syndrome associated with craniosynostosis
Inkluderer 69 beslektede undertyper ↓Skjul undertyper ↑
- 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
