Apert's syndrome (a type of acrocephalosyndactyly)–observations on a British series of thirty‐nine cases*

Abstract

Summary Acrocephalosyndactyly may be divided into two main clinical categories: (i) Apert's syndrome, and (ii) atypical acrocephalosyndactyly. Apert's syndrome can be attributed to a single gene in heterozygous form. On this hypothesis sporadic cases are due to new mutation in the germ cells of one or other parent. Although it is convenient at present to speak of the syndrome as homogeneous, there are indications, namely, the difference in parental age distribution between sporadic cases with severe developmental deformity of the viscera and sporadic cases without known visceral deformity, that this might not be so. The incidence at birth of Apert's syndrome is estimated as approximately 1 in 160,000 and that in the general population as 1 in 2,000,000. The difference between these estimates is in part due to lack of ascertainment in the living population and in part due to the high mortality of these patients, particularly in early infancy. The rate of mutation at the Apert locus is estimated to be 3 times 10‐6 per gene per generation. There is a marked parental age effect among sporadic cases of Apert's syndrome; this is probably due solely to an increase in father's age. Apert's syndrome and atypical acrocephalosyndactyly are probably etiologically unrelated. I am greatly indebted to Prof. Penrose for his interest and guidance throughout this study and especially for his advice on the statistical treatment of the parental age data. Thanks are due to Dr C. A. B. Smith for his guidance on various statistical matters and to Dr D. G. Harnden, Medical Research Council Unit, Harwell, for a report on the chromosomes of case 18. I would like to express my gratitude to the many medical practitioners, specialists and general practitioners, who have helped in the ascertainment and investigation of the patients in this series.

Carpenter Syndrome: Acrocephalopolysyndactyly Type II

“…The differential diagnosis of the Carpenter syndrome includes the Apert syndrome with which it is most often confused. 12 The abnormality of the skull in the Carpenter syndrome is generally less severe than in Apert and the other acrocephaly syndromes. The characteristic features of the Apert syndrome are acrocephaly due to synostosis of the coronal suture and syndactyly, which is symmetrical and involves all four extremities in a mitten or stocking-like deformity, but there is no Polydactyly.…”

Apert syndrome: factors involved in the cognitive development

“…AS answers for 4.5% of all craniosynostoses 2 . One estimates the incidence of AS from one to 160,000 b o rn alive 3 to one for 55,000 born alive 4 . The malformations of the central nervous system (CNS) usually re p o rted in this syndrome are abnormalities of the corpus callosum (CC), hypoplasia or absence of the septum pellucidum, hippocampal hypoplasia or dysplasia and cerebral cortex dysplasia 5 …”

Neuropsychological and phonological evaluation in the Apert's syndrome: study of two cases

“…In 1906, Apert 2 published a summary on nine cases, and in 1920 Park and Powers 3 wrote an excellent monography on this disease. In 1960, Blank 4 registered a total of 150 published cases. Apert's syndrome is a genetic pathology of dominant autosomal inheritance and it has as main characteristics: the acrocephalia due to synostosis of the coronary suture and the syndactilism which most of the time is symmetrical involving the four extremities.…”