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Start free with EleplanAbsent tibia-polydactyly-arachnoid cyst syndrome
ORPHA:3328Malformation syndrome
Also called Holmes-Collins syndrome
What it is
A rare multiple congenital anomalies/dysmorphic syndrome characterized by absence/hypoplasia of tibia, postaxial polydactyly of the hands, pre and /or postaxial polydactyly of the feet and retrocerebellar arachnoid cyst. Bowing of the radius and ulna and syndactyly may also be present. Additional clinical features may include ventriculomegaly, cleft lip, diaphragmatic agenesis and malrotation of the colon. There have been no further descriptions in the literature since 1995.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Unknown
- 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.
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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