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Start free with EleplanAcrodysostosis
ORPHA:950Malformation syndrome
Also called Acrodysostosis with or without multiple hormonal resistance · Acrodysplasia · Arkless-Graham syndrome · Maroteaux-Malamut syndrome
What it is
An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Key facts
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
19- Abnormal form of the vertebral bodies
- Abnormal metacarpal morphology
- Abnormal nail morphology
- Accelerated skeletal maturation
- Brachydactyly
- Cone-shaped epiphysis
- Depressed nasal bridge
- Depressed nasal ridge
- Epiphyseal stippling
- Hypoplasia of the maxilla
- Intellectual disability
- Midface retrusion
- Open mouth
- Short metacarpal
- Short metatarsal
- Short nose
- Short stature
- Short toe
- Wide nasal bridge
Common30–79%
27- Abnormal diaphysis morphology
- Abnormality of female external genitalia
- Abnormality of femur morphology
- Abnormality of immune system physiology
- Abnormal metaphysis morphology
- Abnormal morphology of the radius
- Abnormal morphology of ulna
- Anteverted nares
- Bowing of the long bones
- Brachycephaly
- Cone-shaped metacarpal epiphyses
- Coxa valga
- Cryptorchidism
- Delayed eruption of teeth
- Frontal bossing
- Genu varum
- Hearing impairment
- Hypertelorism
- Hypoplasia of the radius
- Hypoplasia of the ulna
- Joint dislocation
- Mandibular prognathia
- Micromelia
- Peripheral neuropathy
- Prominent forehead
- Spinal canal stenosis
- Telecanthus
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
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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