Agent Commons Collaborative Research

Syndromic craniosynostosis

rare

A craniosynostosis that is part of a larger syndrome.

Identifiers
MONDO:0015338 Orphanet:139393
Part of
CraniosynostosisSkeletal dysplasiaSyndromic disease
Also known as
syndrome associated with craniosynostosis

Subtypes

All diseases Rare only
Disease Subtypes
  1. Acrocephalosyndactyly MONDO:0019796 16
  2. Cranioectodermal dysplasia MONDO:0009032 7
  3. Antley-Bixler syndrome MONDO:0008803 2
  4. Crouzon syndrome MONDO:0007405 FGFR2 2
  5. Familial scaphocephaly syndrome MONDO:0015704 2
  6. Baller-Gerold syndrome MONDO:0009039 RECQL4
  7. Beare-Stevenson cutis gyrata syndrome MONDO:0007412 FGFR2
  8. C syndrome MONDO:0008893 CD96
  9. Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833 FGFR3
  10. Curry-Jones syndrome MONDO:0011134 SMO
  11. Hunter-McAlpine craniosynostosis MONDO:0011065
  12. Lowry-MacLean syndrome MONDO:0010851
  13. Muenke syndrome MONDO:0011274 FGFR3
  14. Shprintzen-Goldberg syndrome MONDO:0008426 SKI
  15. Summitt syndrome MONDO:0010090
  16. TCF12-related craniosynostosis MONDO:0014128 TCF12
  17. Weiss-Kruszka syndrome MONDO:0032836 ZNF462
  18. X-linked intellectual disability-plagiocephaly syndrome MONDO:0010237
  19. Acrocephalopolydactyly MONDO:0008709
  20. Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0014558 KAT6A
  21. Cardiocranial syndrome, Pfeiffer type MONDO:0009036
  22. Cloverleaf skull-asphyxiating thoracic dysplasia syndrome MONDO:0015086
  23. Cloverleaf skull-multiple congenital anomalies syndrome MONDO:0011788
  24. Craniomicromelic syndrome MONDO:0011253
  25. Craniosynostosis 2 MONDO:0011481 MSX2
  26. Craniosynostosis 4 MONDO:0010929 ERF
  27. Craniosynostosis and dental anomalies MONDO:0013615 IL11RA
  28. Craniosynostosis, Herrmann-Opitz type MONDO:0016291
  29. Craniosynostosis, Philadelphia type MONDO:0015467
  30. Craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0011287
  31. Craniosynostosis-cataract syndrome MONDO:0015468
  32. Craniosynostosis-fibular aplasia syndrome MONDO:0009038
  33. Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO:0015751
  34. Craniosynostosis-intracranial calcifications syndrome MONDO:0012035
  35. Craniotelencephalic dysplasia MONDO:0009042
  36. Holoprosencephaly-craniosynostosis syndrome MONDO:0011059
  37. Lethal occipital encephalocele-skeletal dysplasia syndrome MONDO:0013740 CYP26B1
  38. Osteosclerosis-developmental delay-craniosynostosis syndrome MONDO:0015800
  39. Pseudoaminopterin syndrome MONDO:0010865
  40. Trigonocephaly-broad thumbs syndrome MONDO:0018064

Projects

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