Donohue syndrome
MeSH: D056731ORPHA: 508
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Donohue syndrome, sourced from HPO and Orphanet clinical annotations.
Insulin resistanceHyperkeratosisHypertrichosisFasting hypoglycemiaReduced subcutaneous adipose tissueSevere intrauterine growth retardationPostnatal growth retardationPostprandial hyperglycemiaLong penisLabial hypertrophyEnlarged kidneyHyperinsulinemiaAcanthosis nigricansIntellectual disabilityFailure to thriveHypertrophic cardiomyopathyFacial hypertrichosisHepatomegalySkeletal muscle atrophyOvergrowth of external genitaliaAbdominal distentionDecreased body weightProminent nipplesRecurrent infantile hypoglycemiaClitoral hypertrophySevere global developmental delayNephrocalcinosisMicrocephalyPointed chinHypertelorismLow-set earsProtruding earWide noseIncreased circulating renin concentrationIncreased circulating aldosterone concentrationHyperextensible skinThickened skinLarge handsLong footRectal prolapseHypercalciuriaHypokalemiaAxial hypotoniaCentral hypothyroidismThick vermilion borderMegarectumEnlarged ovaries
Classification & Codes
MeSH Code
D056731Orphanet Code
ORPHA:508Donohue syndrome
| MeSH | D056731 |
| Orphanet | ORPHA:508 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO