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Start free with EleplanWormian bones-micrognathia-abnormal dentition-progeroid syndrome
ORPHA:659873Malformation syndrome
Also called LEMD2-associated nuclear envelopathy with early progeroid appearance · Marbach-Rustad progeroid syndrome
What it is
A rare multiple congenital anomalies/dysmorphic syndrome characterized by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumenary teeth and delayed dentition), microcephaly, skeletal features including Wormian bones and hypoplastic clavicles, generalized lipoathrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density.
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.
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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