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Acrocephalosyndactyly

Dr Abhilash Sandhyala and Radswiki et al.

The acrocephalosyndactyly syndromes (ACS) comprise of a rare group of disorders collectively charactrised by

calvarial anomalies : e.g. craniosynostoses
digital anomalies : e.g. syndactyly

While there can be some overlap in features, they can be primarily classified into the following major types

type I : Apert syndrome ¹
type II : Apert-Crouzon syndrome ⁵
type III : Saethre-Chotzen syndrome ³
type IV : ?
type V : Pfeiffer syndrome
others
- Robinow-Sorauf syndrome

When there are calvarial anomalies with polydactyly and syndactyly, these then fall into group named acrocephalopolysyndactyly syndromes (ACPS). Many however suggest that the distinction between to ACS and ACPS should be abandoned.

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References

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1. Prevel CD, Eppley BL, Mccarty M. Acrocephalosyndactyly syndromes: a review. J Craniofac Surg. 1997;8 (4): 279-85. - Pubmed citation
2. Escobar V, Bixler D. On the classification of the acrocephalosyndactyly syndromes. Clin. Genet. 1977;12 (3): 169-78. - Pubmed citation
3. Goho C. Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case. ASDC J Dent Child. 65 (2): 136-7. - Pubmed citation
4. Wallis-crespo MC, Enid GB. Pathology teach and tell: acrocephalosyndactyly type I (Apert syndrome). Fetal Pediatr Pathol. 23 (2-3): 191-7. - Pubmed citation
5. Bissonnette B, Dalens BJ. Syndromes, rapid recognition and perioperative implications. McGraw-Hill Professional. (2006) ISBN:0071354557. Read it at Google Books - Find it at Amazon