- Klippel-Feil syndrome
- Feil-Klippel syndrome
- Klippel-Feil anomalad
- Klippel-Feil phenotype
Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion. A low hairline is another constant characteristic.
A long list of associated features includes torticollis, facial asymmetry, scoliosis and kyphosis; difficulty in breathing and swallowing, cleft palate, micrognathia, mental retardation, deafness, strabismus, nystagmus, spastic quadriplegia, synkinesis, ataxia, anaesthesia, paraesthesia, and various muscle abnormalities.
Females prevalently affected (65%). The severe form of this syndrome is known as iniencephaly. When associated with the Bonnevie-Ullrich syndrome, it is called the Nielsen disease. The aetiology is unknown. Autosomal dominant or recessive disorder with various degree of penetrance.
Victor Albrecht von Haller (1708-1777) in 1743 and Giovanni Battista Morgagni (1682-1771) in 1746 described the anatomic features of the condition. It was probably first described in 1893 by Sir Jonathan Hutchinson (1828-1913) and Klippel-Feil in 1912 gave a comprehensive interpretation of the subject.
Nielsen’s syndrome is a combination of Klippel-Feil syndrome and Bonnevie-Ullrich syndrome (pterygium colli).
- A. von Haller:
Icones anatomicae quibus praecipuae aliquae partes corporis humani delineatae proponutur et arterianum potissimum historia continuatr.
8 parts, Gottingae, A. Vandenhoeck, 1743-1756.
- M. Klippel, A. Feil:
Un cas d'absence des vertèbres cervicales avec cage thoracique remontant jusqu’ à la base du crâne (cage thoracique cervicale).
Nouvelle iconographie de la Salpêtrière, Paris, 1912; 25: 223-250.
English translation in Bick, Classics of Orthopaedics, 511-516.