Acrocephalosyndactyly

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Acrocephalosyndactyly
Other namesACS
Syndactyly in acrocephalosyndactyly (Apert)
SpecialtyMedical genetics

Acrocephalosyndactyly is a group of autosomal dominant congenital disorders characterized by craniofacial (craniosynostosis) and hand and foot (syndactyly) abnormalities.[1] When polydactyly is present, the classification is acrocephalopolysyndactyly.[2] Acrocephalosyndactyly is mainly diagnosed postnatally, although prenatal diagnosis is possible if the mutation is known to be within the family genome.[1] Treatment often involves surgery in early childhood to correct for craniosynostosis[3] and syndactyly.[4]

Characteristics[edit]

Acrocephalosyndactyly presents in numerous different subtypes, however, considerable overlap in symptoms occurs. Generally, all forms of acrocephalosyndactyly are characterized by craniofacial, hand, and foot abnormalities, such as premature closure of the fibrous joints in between certain bones of the skull,[5][6] fusion of certain fingers or toes,[7] and/or more than the normal number of digits.[8] Some subtypes also involve structural heart deformations that are present at birth.[1]

Cause[edit]

Most forms of acrocephalosyndactyly or acrocephalopolysyndactyly are inherited in autosomal dominant pattern,[1] with the exclusion of Carpenter Syndrome which is inherited in autosomal recessive manner. De-novo mutations in different genes were reported to cause several types of acrocephalosyndactyly. Among known genetic changes, there are mutations in genes such as Fibroblast growth factor receptor (FGFR),[5][6][9][10] TWIST1,[11] and RAB23.[12] Genetically inherited acrocephalosyndactyly disorders all show high to complete penetrance with a variable expression.[1] Increased paternal age is considered a risk factor in some cases.[1]

Diagnosis[edit]

Prenatal Diagnosis[edit]

Prenatal diagnosis is an option in some forms of acrocephalosyndactyly. A prenatal genetic diagnosis is only possible if the gene mutation responsible for the syndrome is known and the mutation causing the disease has been identified within the family genome. This can be done using amniocentesis or chorionic villus sampling, which test the embryonic stem cells in the amniotic fluid or placental cells, respectively.[13] There has been a case of a prenatal diagnosis of Apert syndrome using fetoscopy.[14] Alternatively, there has been interest in using non-invasive techniques like ultrasound to detect fetal skull abnormalities.[15]

Postnatal Diagnosis[edit]

Most diagnoses of acrocephalosyndactyly occur after birth by assessing the physical symptoms of the infant. This can be supported with radiographic evaluation, such as X-ray imaging, and molecular genetic testing, which looks for DNA mutations known to cause the disease.[16][17] Molecular genetic testing typically occurs in the FGFR, TWIST1, and RAB23 genes.

Nomenclature/Classification[edit]

There is no consistent nomenclature or classification across the different syndromes under the umbrella of acrocephalosyndactyly and acrocephalopolysyndactyly. Although acrocephalosyndactyly has been reported as early as the 18th century,[18] the ACS and ACPS classifications only came in the latter 20th century. However, this classification may be outdated as it has been suggested that the distinction between acrocephalosyndactyly and acrocephalopolysyndactyly should be erased.[2]

Currently, Noack syndrome (ACPS type I) is now classified as Pfeiffer syndrome (ACS type V);[19] Goodman syndrome (ACPS type IV) is classified as a variation of Carpenter syndrome (ACPS type II);[8] and different researchers have combined Apert (ASC type I), Crouzon (ASC type II), and Pfeiffer (ASC type V) syndrome into Apert-Crouzon[20] and Crouzon-Pfeiffer[21] syndrome.

Acrocephalosyndactyly type IV was formerly called Mohr Syndrome, however, it was later classified under Orofaciodigital syndrome type II.[22] Pfeiffer syndrome was formerly type VI and Waardenburg type V, but this was changed sometime after 1966.[23]  

Acrocephalosyndactyly (ACS):

A related term, acrocephalopolysyndactyly (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:

Treatment[edit]

Craniosynostosis[edit]

For subtypes with craniosynostosis, surgery is required to prevent premature fusion of cranial sutures, such as the coronal suture (brachycephaly).[3] Cranioplasty should be performed the first year of life to prevent disruptions in brain growth due to increased intracranial pressure. Additionally, surgery may be required to improve appearance, especially in unilateral coronal synostosis (anterior plagiocephaly). Midface surgery may also be required in childhood to detach the midface from the rest of the skull to correct respiratory and orthodontic problems.[32][33]

Syndactyly[edit]

Syndactyly in certain subtypes is rarely severe enough to affect hand function, so treatment may not be needed.[32]

In more severe subtypes, as seen in Apert syndrome, surgical correction of syndactyly may be needed. Surgery is recommended to be performed as soon as possible, generally at 4 months of age. Treatment is dependent on the severity of syndactyly. The surgical treatment generally involves interdigital webspace release and thumb lengthening.[4]

See also[edit]

References[edit]

  1. ^ a b c d e f Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Acrocephalosyndactyly Syndromes", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies
  2. ^ a b Cohen, M. Michael; Kreiborg, Sven (May 1995). "Hands and feet in the Apert syndrome". American Journal of Medical Genetics. 57 (1): 82–96. doi:10.1002/ajmg.1320570119. ISSN 0148-7299. PMID 7645606.
  3. ^ a b Craniosynostosis : diagnosis, evaluation, and management. M. Michael Cohen, Ruth E. MacLean (2nd ed.). New York: Oxford University Press. 2000. ISBN 0-19-511843-X. OCLC 41528658.{{cite book}}: CS1 maint: others (link)
  4. ^ a b Raposo-Amaral, Cassio Eduardo; Denadai, Rafael; Furlan, Pedro; Raposo-Amaral, Cesar Augusto (October 2018). "Treatment of Apert Hand Syndrome: Strategies for Achieving a Five-Digit Hand". Plastic and Reconstructive Surgery. 142 (4): 972–982. doi:10.1097/PRS.0000000000004815. ISSN 0032-1052. PMID 29994846. S2CID 51614940.
  5. ^ a b Wilkie, Andrew O. M.; Slaney, Sarah F.; Oldridge, Michael; Poole, Michael D.; Ashworth, Geraldine J.; Hockley, Anthony D.; Hayward, Richard D.; David, David J.; Pulleyn, Louise J.; Rutland, Paul; Malcolm, Susan; Winter, Robin M.; Reardon, William (February 1995). "Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome". Nature Genetics. 9 (2): 165–172. doi:10.1038/ng0295-165. ISSN 1546-1718. PMID 7719344. S2CID 12423131.
  6. ^ a b Carinci, Francesco; Pezzetti, Furio; Locci, Paola; Becchetti, Ennio; Carls, Friedrick; Avantaggiato, Anna; Becchetti, Alessio; Carinci, Paolo; Baroni, Tiziano; Bodo, Maria (May 2005). "Apert and Crouzon Syndromes: Clinical Findings, Genes and Extracellular Matrix". Journal of Craniofacial Surgery. 16 (3): 361–368. doi:10.1097/01.SCS.0000157078.53871.11. ISSN 1049-2275. PMID 15915098. S2CID 23327865.
  7. ^ Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Acrocephalopolysyndactyly Type IV: Goodman Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education
  8. ^ a b Cohen, Donald M.; Green, James G.; Miller, Janice; Gorlin, Robert J.; Reed, Jerry A.; Opitz, John M.; Reynolds, James F. (October 1987). "Acrocephalopolysyndactyly type II—Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes". American Journal of Medical Genetics. 28 (2): 311–324. doi:10.1002/ajmg.1320280208. ISSN 0148-7299. PMID 3322002.
  9. ^ Galvin, B D; Hart, K C; Meyer, A N; Webster, M K; Donoghue, D J (23 July 1996). "Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras". Proceedings of the National Academy of Sciences. 93 (15): 7894–7899. Bibcode:1996PNAS...93.7894G. doi:10.1073/pnas.93.15.7894. ISSN 0027-8424. PMC 38845. PMID 8755573.
  10. ^ Vogels, Annick; Fryns, Jean-Pierre (1 June 2006). "Pfeiffer syndrome". Orphanet Journal of Rare Diseases. 1 (1): 19. doi:10.1186/1750-1172-1-19. ISSN 1750-1172. PMC 1482682. PMID 16740155.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  11. ^ Cai, Juanliang; Goodman, Barbara K.; Patel, Ankita S.; Mulliken, John B.; Van Maldergem, Lionel; Hoganson, George E.; Paznekas, William A.; Ben-Neriah, Ziva; Sheffer, Ruth; Cunningham, Michael L.; Daentl, Donna L.; Jabs, Ethylin Wang (1 December 2003). "Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening". Human Genetics. 114 (1): 68–76. doi:10.1007/s00439-003-1012-7. ISSN 1432-1203. PMID 14513358. S2CID 20929600.
  12. ^ Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda S.; Perlyn, Chad A.; Alonso, Luís G.; Bueno, Daniela F.; Donnai, Dian; Josifiova, Dragana; Mathijssen, Irene M. J.; Morton, Jenny E. V.; Ørstavik, Karen Helene; Sweeney, Elizabeth; Wall, Steven A.; Marsh, Jeffrey L.; Nürnberg, Peter (1 June 2007). "RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity". The American Journal of Human Genetics. 80 (6): 1162–1170. doi:10.1086/518047. ISSN 0002-9297. PMC 1867103. PMID 17503333.
  13. ^ Gallagher, Emily R.; Ratisoontorn, Chootima; Cunningham, Michael L. (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Saethre-Chotzen Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301368, retrieved 5 November 2022
  14. ^ Leonard, Claire O.; Daikoku, Norman H.; Winn, Kevin; Opitz, John M. (January 1982). "Prenatal fetoscopic diagnosis of the Apert syndrome". American Journal of Medical Genetics. 11 (1): 5–9. doi:10.1002/ajmg.1320110103. ISSN 0148-7299. PMID 7065003.
  15. ^ Wynbrandt, James (2008). The encyclopedia of genetic disorders and birth defects. Mark D. Ludman (3rd ed.). New York: Facts On File. ISBN 978-0-8160-6396-3. OCLC 76939975.
  16. ^ "Apert syndrome - Diagnosis & Treatment - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 5 November 2022.
  17. ^ Gonzales, M.; Heuertz, S.; Martinovic, J.; Delahaye, S.; Bazin, A.; Loget, P.; Pasquier, L.; Le Merrer, M.; Bonaventure, J. (17 June 2005). "Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation: Letter to the Editor". Clinical Genetics. 68 (2): 179–181. doi:10.1111/j.1399-0004.2005.00477.x. PMID 15996217. S2CID 1652216.
  18. ^ Wheaton, S. W. (1894). "Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes". Trans. Path. Soc. Lon. 45: 238–241.
  19. ^ a b c d "Entry - #101600 - PFEIFFER SYNDROME - OMIM". omim.org. Retrieved 5 November 2022.
  20. ^ Rédei, George P., ed. (2008), "Apert or Apert-Crouzon Syndrome", Encyclopedia of Genetics, Genomics, Proteomics and Informatics, Dordrecht: Springer Netherlands, p. 127, doi:10.1007/978-1-4020-6754-9_1009, ISBN 978-1-4020-6754-9, retrieved 5 November 2022
  21. ^ Wilson, Alexander T.; de Planque, Catherine A.; Yang, Sumin S.; Tasker, Robert C.; van Veelen, Marie-Lise C.; Dremmen, Marjolein H. G.; Vrooman, Henri A.; Mathijssen, Irene M. J. (October 2020). "Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion". Plastic and Reconstructive Surgery. Global Open. 8 (10): e3204. doi:10.1097/GOX.0000000000003204. ISSN 2169-7574. PMC 7647527. PMID 33173703.
  22. ^ a b "Entry - %252100 - MOHR SYNDROME - OMIM". omim.org. Retrieved 5 November 2022.
  23. ^ a b McKusick, V. A. (1966). "Autosomal Dominant Phenotypes". Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Johns Hopkins Press. pp. 3–5.
  24. ^ "Entry - #101200 - APERT SYNDROME - OMIM". omim.org. Retrieved 5 November 2022.
  25. ^ "Entry - #123500 - CROUZON SYNDROME - OMIM". omim.org. Retrieved 5 November 2022.
  26. ^ "Entry - #101400 - SAETHRE-CHOTZEN SYNDROME; SCS - OMIM". omim.org. Retrieved 5 November 2022.
  27. ^ Reardon, W.; Winter, R. M. (1994). "Saethre-Chotzen syndrome". Journal of Medical Genetics. 31 (5): 393–396. doi:10.1136/jmg.31.5.393. ISSN 0022-2593. PMC 1049872. PMID 8064818.
  28. ^ "Entry - #201000 - CARPENTER SYNDROME 1; CRPT1 - OMIM". omim.org. Retrieved 5 November 2022.
  29. ^ a b "Entry - 201020 - ACROCEPHALOPOLYSYNDACTYLY TYPE IV - OMIM". omim.org. Retrieved 5 November 2022.
  30. ^ "Entry - 272350 - SUMMITT SYNDROME - OMIM". omim.org. Retrieved 5 November 2022.
  31. ^ "Entry - 101120 - ACROCEPHALOPOLYSYNDACTYLY TYPE III - OMIM". omim.org. Retrieved 5 November 2022.
  32. ^ a b Anderson, Peter. "Headlines Craniofacial Support" (PDF). Archived from the original on 30 June 2012.
  33. ^ "Pfeiffer Syndrome". NORD (National Organization for Rare Disorders). Retrieved 5 November 2022.

External links[edit]

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