Holzgreve-Wagner-Rehder syndrome

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

The wood Greve-Wagner-Rehder syndrome or wood Greve syndrome is a very rare disease with a combination of Potter sequence , heart defects , cleft palate .

The name refers to the authors of the first description from 1984 by W. Holzgreve , H. Wagner , H. Rehder .

distribution

The frequency is not known; only a few cases have been described to date.

Clinical manifestations

Clinical criteria are:

• Bilateral renal agenesis
• Cleft palate
• Heart defect
• Skeletal abnormalities such as hexadactyly , metacarpal fissures

In addition, there may be:

• Growth retardation
• Auricle abnormalities
• Flattened bridge of the nose

Differential diagnosis

In terms of differential diagnosis, one should think of Pallister-Hall syndrome , among other things . The Thomas syndrome , which is largely identical to the Holzgreve syndrome, but is not associated with polydactyly, must also be differentiated .

literature

• E. Legius, P. Moerman, JP Fryns, K. Vandenberghe, E. Eggermont: Holzgreve-Wagner-Rehder syndrome: Potter sequence associated with persistent buccopharyngeal membrane. A second observation. In: American journal of medical genetics. Vol. 31, No. 2, October 1988, ISSN  0148-7299 , pp. 269-272, doi: 10.1002 / ajmg.1320310203 , PMID 3232694 .
• T. Thomas, GM Honore, T. Jewett, H. Velvis, P. Garber, C. Ruiz: Holzgreve syndrome: recurrence in sibs. In: American journal of medical genetics. Vol. 45, No. 6, March 1993, ISSN  0148-7299 , pp. 767-769, doi: 10.1002 / ajmg.1320450621 , PMID 8456859 .
• B. Lace, B. Barkane, I. Akota: The most common genetic syndromes and associated anomalies in Latvian patients with cleft lip with or without palate. In: Stomatologija, Baltic Dental and Maxillofacial Journal . Vol. 8, 2006, pp. 57-60 ( PDF ).

Web links

• Holzgreve-Wagner-Rehder syndrome. In: Orphanet (Rare Disease Database).

Individual evidence

1. ↑ Holzgreve-Wagner-Rehder syndrome.  In: Online Mendelian Inheritance in Man . (English)
2. ^ W. Holzgreve, H. Wagner, H. Rehder: Bilateral renal agenesis with Potter phenotype, cleft palate, anomalies of the cardiovascular system, skeletal anomalies including hexadactyly and bifid metacarpal: a new syndrome? In: American Journal of Medical Genetics Vol. 18, 1984, pp. 177-182, PMID 6741992 .
3. ↑ Rightdiagnosis wood Greve-Wagner-Rehder syndrome

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 !