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Start free with EleplanMelhem-Fahl syndrome
ORPHA:2482Malformation syndrome
What it is
A rare dysostosis characterized by the presence of fifteen dorsal vertebrae and rib pairs with a normal complement of lumbar vertebrae. Patients may also present with Hirschsprung's disease, membraneous imperforate anus with perineal fistula, cryptorchidism, high-arched palate, simian crease and absent nails. There have been no further descriptions in the literature since 1985.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- 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.
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.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
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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