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Start free with EleplanTrigonocephaly-broad thumbs syndrome
ORPHA:3365Malformation syndrome
Also called Hunter-Rudd-Hoffmann syndrome
What it is
A rare syndromic craniosynostosis characterized by neonatal trigonocephaly with prominent metopic ridge/bregma, hypotelorism, shallow orbits, deviation of the digits, broad thumbs with duplication of the terminal phalanx and clinodactyly. Craniofacial dysmorphism may also include oxycephaly, facial asymmetry, epicanthic folds, ptosis, hooked nose with extended septum (the philtrum may be attached anteriorly on the septum), and a large mouth with a downturned upper lip. Nail and dermatoglyphic abnormalities have also been reported. There have been no further descriptions in the literature since 1976.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- 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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