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Disease Profile

Peters plus syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q13.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Peters anomaly with short limb dwarfism; Krause-Kivlin syndrome

Categories

Congenital and Genetic Diseases; Eye diseases; Heart Diseases;

Summary

Peters plus syndrome (PPS) affects many different parts of the body. The most common affected parts are the eyes. PPS causes abnormal development of the structures in the front of the eye, known as Peters anomaly. Other symptoms include limited growth, short limbs, cleft lip and/or palate, distinctive face, and developmental or intellectual disability. Less common symptoms may include heart and kidney abnormalities. The severity of symptoms varies from person to person. Because PPS has only been reported in a small number of people, it is not clear how this condition changes with age. PPS is caused by a variant in the B3GLCT gene and is inherited in an autosomal recessive fashion. Diagnosis is based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms, and may involve surgery to correct the eyes.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with Peters plus syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of Peters plus syndrome may include:[1][2]

  • Peters anomaly (abnormal structures in the front of the eye)
  • Cloudy corneas
  • Short stature
  • Shortened limbs
  • Developmental delay and/or intellectual disability 
  • Cleft lip and/or cleft palate

Other less common symptoms may include heart and kidney abnormalities. Growth delay starts during pregnancy, and most people with PSS are shorter than average. Some degree of developmental delay and/or intellectual disability is common. Some people with PPS develop cataracts or glaucoma later in life.

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anterior chamber synechiae
0007833
Brachycephaly
Short and broad skull
0000248
Brachydactyly
Short fingers or toes
0001156
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Corneal opacity
0007957
Exaggerated cupid's bow
Cupid bow upper lip
Cupid-bow shaped upper lip
Prominent cupid-bow of upper lip

[ more ]

0002263
Glaucoma
0000501
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Long philtrum
0000343
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micromelia
Smaller or shorter than typical limbs
0002983
Peters anomaly
0000659
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Short columella
0002000
Short foot
Short feet
Small feet

[ more ]

0001773
Short neck
Decreased length of neck
0000470
Short toe
Short toes
Stubby toes

[ more ]

0001831
Thin upper lip vermilion
Thin upper lip
0000219
30%-79% of people have these symptoms
Abnormal cardiac septum morphology
0001671
Abnormality of the pulmonary artery
Abnormality of lung artery
0004414
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Feeding difficulties in infancy
0008872
Frontal bossing
0002007
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypospadias
0000047
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Microtia, second degree
0008569
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Postnatal growth retardation
Growth delay as children
0008897
Preauricular pit
Pit in front of the ear
0004467
Preauricular skin tag
0000384
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Short palpebral fissure
Short opening between the eyelids
0012745
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Webbed neck
Neck webbing
0000465
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth

[ more ]

0000687
5%-29% of people have these symptoms
Anal atresia
Absent anus
0002023
Anterior hypopituitarism
0000830
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aplasia/Hypoplasia of the corpus callosum
0007370
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Clitoral hypoplasia
Small clitoris
Underdeveloped clit

[ more ]

0000060
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Congenital hypothyroidism
Underactive thyroid gland from birth
0000851
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

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Cause

Peters plus syndrome is caused by the B3GLCT gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1][2]

Diagnosis

Peters plus syndrome is diagnosed based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Ophthalmologic exam and imaging studies can be helpful for diagnosis as well.[1][3][4]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

Treatment for Peters plus syndrome is focused on managing the symptoms, and may include eye surgery to help preserve vision.[1]

Specialists involved in the care of someone with Peters plus syndrome may include:

  • Ophthalmologist
  • Endocrinologist
  • Developmental specialist
  • Cardiologist
  • Urologist
  • Audiologist

Learn more

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.

Where to Start

  • MedlinePlus Genetics contains information on Peters plus syndrome. This website is maintained by the National Library of Medicine.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Peters plus syndrome. Click on the link to view a sample search on this topic.

References

  1. Lesnik Oberstein, SAJ, Ruivenkamp CAL, Hennekam R. Peters Plus Syndrome. GeneReviews. Updated August 24, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1464/.
  2. Jaeken J, Lefeber DJ, Matthijs G. Clinical utility gene card for: Peters plus syndrome. Eur J Hum Genet. Aug 2016; 24(8):https://pubmed.ncbi.nlm.nih.gov/27049305.
  3. Demir GÜ, Lafci NG, Dogan ÖA, Simsek-Kiper PÖ, Utine GE. Peters Plus syndrome: a recognizable clinical entity. Turk J Pediatr. 2020; 62(1):136-140. https://pubmed.ncbi.nlm.nih.gov/32253880.
  4. Wang YE, Rmirez DA, Chang TC, Berrocal A. Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation a case report. BMC Ophthalmol. Mar 23, 2020; 20(1):118. https://pubmed.ncbi.nlm.nih.gov/32204707.

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