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ORPHA:508Malformation syndrome
What it is
A subtype of INSR-related severe insulin resistance characterized by severe intrauterine growth retardation, postnatal failure to thrive, dysmorphic features, extreme insulin resistance, fluctuating blood glucose levels. The life expectancy is very short, with death usually occurring during infancy due to metabolic complications, cardiomyopathy and/or infections.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, 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.
Signs and symptoms
Very common80–99%
8Common30–79%
18- Abdominal distention
- Acanthosis nigricans
- Clitoral hypertrophy
- Decreased body weight
- Enlarged kidney
- Facial hypertrichosis
- Failure to thrive
- Hepatomegaly
- Hyperinsulinemia
- Hypertrophic cardiomyopathy
- Intellectual disability
- Labial hypertrophy
- Long penis
- Overgrowth of external genitalia
- Prominent nipples
- Recurrent infantile hypoglycemia
- Severe global developmental delay
- Skeletal muscle atrophy
Sometimes5–29%
21- Axial hypotonia
- Central hypothyroidism
- Enlarged ovaries
- Hypercalciuria
- Hyperextensible skin
- Hypertelorism
- Hypokalemia
- Increased circulating aldosterone concentration
and 13 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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