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Start free with EleplanHolzgreve syndrome
ORPHA:2167Malformation syndrome
Also called Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome · Holzgreve-Wagner-Rehder syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
7Common30–79%
14- Abnormality of mesentery morphology
- Abnormally ossified vertebrae
- Abnormal metacarpal morphology
- Abnormal morphology of ulna
- Abnormal rib morphology
- Aplasia/Hypoplasia of the corpus callosum
- Aplasia/Hypoplasia of the tongue
- Bifid tongue
- Joint stiffness
- Macrotia
- Posteriorly rotated ears
- Single umbilical artery
- Turricephaly
- Webbed neck
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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