National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Proteus-like syndrome


Other Names:
Cohen-Hayden syndrome
Categories:
This disease is grouped under:
Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.[9723][1]
Last updated: 10/5/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 30 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pupil morphology
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] 		0000615
Epidermal nevus 0010816
Genu recurvatum
Back knee
Knee hyperextension
[ more ] 		0002816
Hemangioma
Strawberry mark
0001028
Hyperostosis
Bone overgrowth
0100774
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Irregular hyperpigmentation 0007400
Limbal dermoid 0001140
Lower limb asymmetry
Left and right leg differ in length or width
0100559
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] 		0010807
Subcutaneous lipoma 0001031
30%-79% of people have these symptoms
Abnormality of the parathyroid gland 0000828
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Communicating hydrocephalus 0001334
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Heterochromia iridis
Different colored eyes
0001100
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Retinal detachment
Detached retina
0000541
Shagreen patch 0009721
Venous insufficiency
Poorly functioning veins
0005293
5%-29% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Bronchogenic cyst 0100730
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Polycystic ovaries 0000147
Skeletal dysplasia 0002652
Splenomegaly
Increased spleen size
0001744
Thymus hyperplasia
Enlarged thymus
0010516
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Last updated: 7/1/2020

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Proteus-like syndrome. Click on the link to view a sample search on this topic.

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  1. Peter P Stanich, MD; Noralane M Lindor, MD; Mrinal M Patnaik, MBBS. PTEN hamartoma tumor syndrome, including Cowden syndrome. UpToDate. February 2015; Accessed 10/5/2015.