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ORPHA:963Disease
What it is
A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Inheritance
- Not applicable
- Classified as
- Disease
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%
27- Abnormality of the endocrine system
- Acral overgrowth
- Anterior hypopituitarism
- Arthralgia
- Broad foot
- Broad forehead
- Coarse facial features
- Cortical diaphyseal thickening of the upper limbs
- Deep palmar crease
- Deep plantar creases
- Elevated circulating growth hormone concentration
- Fatigue
- Full cheeks
- Hyperhidrosis
- Joint swelling
- Large hands
- Long face
- Macrodactyly
- Macroglossia
- Macrotia
- Mandibular prognathia
- Osteoarthritis
- Pituitary growth hormone cell adenoma
- Seborrheic dermatitis
- Tapered finger
- Thickened skin
- Wide nose
Common30–79%
32- Abnormality of the dentition
- Abnormality of the menstrual cycle
- Anxiety
- Asthenia
- Broad jaw
- Constrictive median neuropathy
- Depression
- Diabetes mellitus
- Dysmenorrhea
- Facial shape deformation
- Frontal bossing
- Generalized hirsutism
- Hoarse voice
- Hypertension
- Hypogonadotropic hypogonadism
- Increased circulating insulin-like growth factor 1 concentration
- Increased circulating prolactin concentration
- Insulin resistance
- Kyphosis
- Migraine
- Multinodular goiter
- Palpebral edema
- Paresthesia
- Pituitary macroadenoma
- Prominent supraorbital ridges
- Skin tags
- Sleep apnea
- Spinal canal stenosis
- Synophrys
- Thick vermilion border
- Type II diabetes mellitus
- Widely spaced teeth
Sometimes5–29%
34- Abnormal heart valve physiology
- Acanthosis nigricans
- Acne
- Adrenal insufficiency
- Arrhythmia
- Cholelithiasis
- Cranial nerve paralysis
- Cutis gyrata of scalp
and 26 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.
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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