Rudiger syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Rudiger syndrome is a very rare congenital Dysmorphiesyndrom with numerous malformations .

The syndrome is also known as EEC syndrome (combination of ectrodactyly , ectodermal dysplasia and cleft palate , corresponding to EEC type 1 )

Further synonyms are: English Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; Rudiger syndrome 1; Walker-Clodius syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip / cleft palate; Ectrodactyly-cleft lip / palate syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip / palate syndrome

According to the Orphanet database , the clinical picture was assigned to the Schinzel-Giedion syndrome .

The name refers to the first author of the first description from 1971 by the Hamburg human geneticist Roswitha A. Rüdiger and collaborators on a pair of siblings.

Clinical manifestations

Clinical criteria are:

Facial dysmorphism with a prominent forehead, epicanthus , sunken nose, snub nose, prominent upper lip
Bilateral ureteral stenosis , hydronephrosis
short fingers, nail hypoplasia , four- finger furrow

shrill voice

Inguinal hernia

Micropenis , bicornuate uterus

Short stature

Cleft palate

Differential diagnosis

The following are to be distinguished:

Hydroletal syndrome ; Schinzel-Giedion Syndrome; Fryns Syndrome

Individual evidence

↑ ^a ^b ^c 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 .
^ Rare Diseases
↑ L. Schnitzler, B. Schubert, L. Larget-Piet, J. Berthelot, S. Cleirens, D. Taviaux: [Rudiger (EEC) syndrome: report of a case associated with atopic dermatitis (author's transl)]. In: Annales de dermatologie et de venereologie. Vol. 105, No. 2, February 1978, pp. 201-206, PMID 677688 .
^ Rüdiger syndrome. In: Orphanet (Rare Disease Database).
^ RA Rüdiger, W. Schmidt, DA Loose, E. Passarge: Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome. In: The Journal of pediatrics. Vol. 79, No. 6, December 1971, pp. 977-981, PMID 5132310 .

Web links

Rudiger syndromes. In: Online Mendelian Inheritance in Man . (English)

[Leiber-1] 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 .

[2] Rare Diseases

[3] L. Schnitzler, B. Schubert, L. Larget-Piet, J. Berthelot, S. Cleirens, D. Taviaux: [Rudiger (EEC) syndrome: report of a case associated with atopic dermatitis (author's transl)]. In: Annales de dermatologie et de venereologie. Vol. 105, No. 2, February 1978, pp. 201-206, PMID 677688 .

[Orpha-4] Rüdiger syndrome. In: Orphanet (Rare Disease Database).

[5] RA Rüdiger, W. Schmidt, DA Loose, E. Passarge: Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome. In: The Journal of pediatrics. Vol. 79, No. 6, December 1971, pp. 977-981, PMID 5132310 .