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Start free with EleplanMyhre syndrome
ORPHA:2588Malformation syndrome
Also called Facial dysmorphism-intellectual disability-short stature-deafness syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome · Myhre-LAPS syndrome · Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
What it is
A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, 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.
Signs and symptoms
Very common80–99%
20- Abnormality of the pubic bone
- Abnormal rib morphology
- Brachydactyly
- Craniofacial hyperostosis
- Global developmental delay
- Hearing impairment
- Hypoplasia of the maxilla
- Intellectual disability
- Intrauterine growth retardation
- Joint stiffness
- Large iliac wings
- Mandibular prognathia
- Midface retrusion
- Narrow mouth
- Platyspondyly
- Severe short stature
- Short palm
- Skeletal muscle hypertrophy
- Specific learning disability
- Thin vermilion border
Common30–79%
12Sometimes5–29%
15- Abnormality of the penis
- Atypical behavior
- Bifid uvula
- Cataract
- Cleft palate
- Epispadias
- External genital hypoplasia
- Femoral hernia
and 7 more in this range
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.
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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