A complex of craniofacial abnormalities caused by premature craniosynostosis, usually of the coronal suture, leading to turribrachycephaly, associated with syndactyly and polydactyly. Cranial abnormalities are of the brachysphenocephalic type with high forehead, small nose, supraorbital horizontal groove, shallow orbits, antimongoloid palpebral fissures, hypoplastic maxilla, and narrow palate. Cleft palate may occur. Syndactyly is due to osseous fusion of the second and fourth fingers with a single nail and soft tissue fusion of the fourth or second to fifth, or of all toes, thus giving the hands and feet a mitten-like appearance. There may be also shortening of upper extremities, deformation of the pectoral girdle, and abnormalities of genitourinary, gastrointestinal, and cardiovascular systems. The syndrome is transmitted as an autosomal dominant trait.
Acrocephalosyndactylies now regarded as heterogeneous and five forms have been delineated. These bear eponyms and numerical designations, the classic Apert syndrome being type I. There is, however, controversy concerning the syndromic identity of certain of these disorders and their independent status is by no means certain.
- S. W. Wheaton:
Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes.
Transactions of the Pathological Society of London, 1894, 45: 238.
- E. Apert:
Bulletins et mémoires de la Société medicale des hôpitaux de Paris, 1906; 23: 1310.
- E. Apert, Léon Tixier (1877-), Huc, Kermorgant:
Nouvelle observation d’acrocéphalosyndactylie.
Bulletins et mémoires de la Société medicale des hôpitaux de Paris, 1923, 3 sér., 47: 1672-1675.
- E. A. Park, G. F. Powers:
Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities. A study of the so-called ”acrocephalosyndactylism”.
American Journal of Diseases of Children, Chicago, 1920, 20: 235.
- C. E. Blank:
Apert’s syndrome (a type of acrocephalosyndactyly). Observations on a British series of 39 cases.
Annals of Human Genetics, London, 1960, 24: 151.