Condizioni che associano la chiusura precoce delle suture craniche ad altre caratteristiche, tra cui le sindromi di Apert, Crouzon, Pfeiffer, Muenke e Saethre-Chotzen, causate da geni come FGFR2, FGFR3, FGFR1, TWIST1, TCF12 ed ERF.
Cosa cambia con una diagnosi
Una diagnosi precoce consente un intervento chirurgico tempestivo e il monitoraggio della crescita della testa, della vista e dell'udito; le forme più lievi, come la sindrome di Muenke, possono non essere riconosciute negli adulti, il che è rilevante per la pianificazione familiare.
Geni analizzati
Conosciuto anche come
syndrome associated with craniosynostosis
Include 69 sottotipi correlati ↓Nascondi i sottotipi ↑
- 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
