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ORPHA:744Malformation syndrome
Also called Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
What it is
A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Infancy
- Inheritance
- Not applicable
- 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%
27- Abnormal form of the vertebral bodies
- Abnormality of finger
- Abnormality of skin pigmentation
- Abnormal subcutaneous fat tissue distribution
- Arteriovenous malformation
- Asymmetric growthDiagnostic criterion
- Asymmetry of the thorax
- Cachexia
- Capillary hemangioma
- Cranial hyperostosisDiagnostic criterion
- Decreased muscle mass
- Disproportionate tall stature
- Epidermal nevus
- Irregular hyperpigmentation
- Kyphosis
- LipomaDiagnostic criterion
- Lower limb asymmetry
- Lymphangioma
- Macrodactyly
- Melanocytic nevus
- Overgrowth
- Scoliosis
- Skeletal dysplasia
- Subcutaneous nodule
- Thickened skin
- Upper limb asymmetry
- Vascular skin abnormality
Common30–79%
25- Abnormal lung lobation
- Bronchogenic cyst
- Calvarial hyperostosis
- Capillary malformationDiagnostic criterion
- Cerebriform connective tissue nevusDiagnostic criterion
- DolichocephalyDiagnostic criterion
- Exostosis of the external auditory canalDiagnostic criterion
- Finger syndactyly
- Generalized hyperkeratosis
- Hamartoma
- Hyperostosis
- Hypertelorism
- LipodystrophyDiagnostic criterion
- Lymphedema
- Macrotia
- Multiple cafe-au-lait spots
- Pulmonary bullaDiagnostic criterion
- Pulmonary cystDiagnostic criterion
- Pulmonary embolismDiagnostic criterion
- Rib exostosesDiagnostic criterion
- Round face
- Thrombophlebitis
- Venous malformationDiagnostic criterion
- Verrucous epidermal nevusDiagnostic criterion
- Visceral angiomatosis
Sometimes5–29%
63- Abnormal cardiovascular system morphology
- Abnormality of dental enamel
- Abnormality of retinal pigmentation
- Abnormality of the neck
- Abnormality of the wrist
- Abnormal metacarpal morphology
- Abnormal nail morphology
- Anteverted naresDiagnostic criterion
and 55 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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