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Start free with EleplanOrofaciodigital syndrome type 9
ORPHA:141007Malformation syndrome
Also called OFD9 · Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities · Orofaciodigital syndrome with retinal abnormalities
What it is
A rare developmental disorder of the ciliopathy group characterized by highly arched palate with bifid and lobulated tongue, lingual hamartoma, multiple frenula, bilateral supernumerary lower canines, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, poly- and syndactyly, mild intellectual disability and specific retinal abnormalities mostly retinal coloboma. Brain structural anomalies may also be observed.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- 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.
Gene
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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