Nielsen syndrome

Classification according to ICD-10
Q76.1	Klippel-Feil Syndrome
Q79.8	Other congenital malformations of the musculoskeletal system
ICD-10 online (WHO version 2019)

The Nielsen syndrome is not common name for a very rare congenital , X-linked dominant inherited disorder with a combination of Klippel-filing and webbed neck syndrome .

The name refers to the first author of the first description from 1934 by the Danish doctor Herman Nielsen (1882–1960)

The syndrome should not be confused with Jervell and Lange-Nielsen syndrome , a QT syndrome .

Clinical manifestations

Clinical criteria are:

• Pterygium colli
• Fusion of vertebral bodies with block vertebrae and thoracic scoliosis
• Facial changes with asymmetry, cleft palate , ptosis , blepharoptosis and hypertelorism
• Short stature
• Camptodactyly with radial axis deviation (deviation) of the 4th and 5th fingers

Differential diagnosis

The Klippel-Feil syndrome must be distinguished.

literature

• E. Moldenhauer: To the clinic of the Nielsen syndrome. In: Dermatologische Wochenschrift , Hamburg, 1964, Vol. 49: p. 594-601.

Individual evidence

1. ^ Who named it Nielsen's syndrome
2. ^ Who named it Nielsen
3. ↑ H. Nielsen: brevicollis congenita. In: Hospitalstidende , Copenhagen, 1934, vol. 77, pp. 409-431.
4. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !