Holzgreve syndrome

Orpha code: 2167OMIM code: 236110

Definicja

Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome
Holzgreve-Wagner-Rehder syndrome
Kod ORPHA
2167
Kod OMIM
236110
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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