Table 1. [Positive and Negative Clinical Criteria Used in the Diagnosis of Proteus Syndrome]. - GeneReviews®

Positive Clinical Criteria	Points
Cerebriform connective tissue nevus	5
Asymmetric, disproportionate overgrowth (of ≥1 of the following):	Limbs	5
Hyperostosis of the skull
Hyperostosis of the external auditory canal
Megaspondylodysplasia, scoliosis, or rib hyperostosis
Organ/visceral overgrowth (of ≥2 of the following):	Central nervous system	5
Urogenital system
Eye
Spleen
Kidney
Liver
Tonsils or adenoids
Gingiva or tongue
Bullae or cysts of the lungs	2
Dysregulated adipose tissue (incl ≥1 of the following):	Lipomas	2
Lipodystrophy
Myocardial septal lipoma
Linear verrucous epidermal nevus	2
Vascular malformations (incl ≥1 of the following):	Capillary malformation	2
Venous malformation
Lymphatic malformation
Specific tumors (incl ≥1 of the following):	Female genitourinary cystadenoma (age <11 yrs)	1
Parotid monomorphic adenoma (age <11 yrs)
Meningioma (meningothelial & transitional subtype)
Testicular cystadenomas or cystadenocarcinomas
Facial phenotype (≥3 features)	Dolichocephaly	2
Long face
Downslanting palpebral fissures &/or minor ptosis
Low nasal bridge
Wide or anteverted nares
Open mouth at rest
Deep vein thrombosis &/or pulmonary embolism	2
Negative Clinical Criteria
Substantial prenatal extracranial overgrowth	−5
Ballooning overgrowth	−5

Positive Clinical Criteria

Points

Cerebriform connective tissue nevus

Asymmetric, disproportionate overgrowth
(of ≥1 of the following):

Limbs

Hyperostosis of the skull

Hyperostosis of the external auditory canal

Megaspondylodysplasia, scoliosis, or rib hyperostosis

Organ/visceral overgrowth
(of ≥2 of the following):

Central nervous system

Urogenital system

Eye

Spleen

Kidney

Liver

Tonsils or adenoids

Gingiva or tongue

Bullae or cysts of the lungs

Dysregulated adipose tissue
(incl ≥1 of the following):

Lipomas

Lipodystrophy

Myocardial septal lipoma

Linear verrucous epidermal nevus

Vascular malformations
(incl ≥1 of the following):

Capillary malformation

Venous malformation

Lymphatic malformation

Specific tumors
(incl ≥1 of the following):

Female genitourinary cystadenoma (age <11 yrs)

Parotid monomorphic adenoma (age <11 yrs)

Meningioma (meningothelial & transitional subtype)

Testicular cystadenomas or cystadenocarcinomas

Facial phenotype
(≥3 features)

Dolichocephaly

Long face

Downslanting palpebral fissures &/or minor ptosis

Low nasal bridge

Wide or anteverted nares

Open mouth at rest

Deep vein thrombosis &/or pulmonary embolism

Negative Clinical Criteria

Substantial prenatal extracranial overgrowth

−5

Ballooning overgrowth

−5

From: Proteus Syndrome

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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