Peters plus syndrome

Title

Other Names:

Peters anomaly with short limb dwarfism; Krause-Kivlin syndrome

Categories:

Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Metabolic disorders; Nervous System Diseases See More

This disease is grouped under:

Congenital disorder of glycosylation with developmental anomaly

Summary Summary

Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly, which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities, such as glaucoma and cataracts are also common. The severity of symptoms may vary from person to person. It is caused by mutations in the B3GLCT gene and is inherited in an autosomal recessive fashion.^[1] Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.^[2]

Last updated: 7/21/2016

Symptoms Symptoms

The main signs and symptoms of Peters plus syndrome include the following:^[2]^[1]

Eye involvement such as anomalies of the anterior chamber of the eye (Peters anomaly), glaucoma, and cataract
Short stature and shortened limbs
Developmental delay and intellectual disability
Characteristic facial features including cleft lip and/or cleft palate, prominent forehead, malformed ears, narrow eyes (short palpebral fissures), and a pronounced double curve of the upper lip (Cupid's bow)

Other associated findings include congenital heart defects, abnormalities of the kidney, structural brain malformations, congenital hypothyroidism, and conductive hearing loss.^[2]^[1]

Last updated: 7/22/2016

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 131 |

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 [ more ]	0005280
Hydronephrosis		0000126
Hypoplasia of the uterus	Small uterus Underdeveloped uterus [ more ]	0000013
Inguinal hernia		0000023
Intestinal fistula		0100819
Iris coloboma	Cat eye	0000612
Low-set, posteriorly rotated ears		0000368
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Multicystic kidney dysplasia		0000003
Optic atrophy		0000648
Patent ductus arteriosus		0001643
Polyhydramnios	High levels of amniotic fluid	0001561
Renal duplication	Extra kidney	0000075
Renal hypoplasia/aplasia	Absent/small kidney Absent/underdeveloped kidney [ more ]	0008678
Rhizomelia	Disproportionately short upper portion of limb	0008905
Sacral dimple	Spinal dimple	0000960
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Spina bifida occulta		0003298
Umbilical hernia		0001537
Ureteral duplication	Double ureter	0000073
Ventriculomegaly		0002119
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610
Wide mouth	Broad mouth Large mouth [ more ]	0000154
1%-4% of people have these symptoms
Abnormal pulmonary vein morphology		0030968
Bicuspid pulmonary valve		0005182
Hypoplastic left heart	Underdeveloped left heart	0004383
Intellectual disability, progressive	Mental retardation, progressive Progressive mental retardation [ more ]	0006887
Percent of people who have these symptoms is not available through HPO
Abnormality of pelvic girdle bone morphology	Abnormal shape of pelvic girdle bone	0002644
Agenesis of corpus callosum		0001274
Agenesis of maxillary lateral incisor		0000690
Anteriorly placed anus		0001545
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Autosomal recessive inheritance		0000007
Biliary tract abnormality		0001080
Bilobate gallbladder		0005608
Birth length less than 3rd percentile		0003561
Broad foot	Broad feet Wide foot [ more ]	0001769
Broad neck	Increased width of neck Wide neck [ more ]	0000475
Broad palm	Broad hand Broad hands Wide palm [ more ]	0001169
Cerebral atrophy	Degeneration of cerebrum	0002059
Conical incisor	Cone shaped front tooth Shark tooth incisor [ more ]	0011065
Craniosynostosis		0001363
Decreased body weight	Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ]	0004325
Diastasis recti	Gap between large left and right abdominal muscles	0001540
Facial hypertrichosis	Increased facial hair growth	0002219
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hemivertebrae	Missing part of vertebrae	0002937
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Hypoplasia of the vagina	Underdeveloped vagina	0008726
Hypoplastic labia majora	Small labia majora Underdeveloped vaginal lips [ more ]	0000059
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Limited elbow movement	Decreased elbow mobility Limited elbow mobility Restricted elbow motion [ more ]	0002996
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Pectus excavatum	Funnel chest	0000767
Pes cavus	High-arched foot	0001761
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Proximal placement of thumb	Attachment of thumb close to wrist	0009623
Ptosis	Drooping upper eyelid	0000508
Renal hypoplasia	Small kidneys Underdeveloped kidneys [ more ]	0000089
Retinal coloboma	Hole in the back of the eye	0000480
Scoliosis		0002650
Seizure		0001250
Short lingual frenulum		0000200
Short metacarpal	Shortened long bone of hand	0010049
Short metatarsal	Short long bone of foot	0010743
Short palm		0004279
Single transverse palmar crease		0000954
Square pelvis bone		0003278
Stenosis of the external auditory canal	Narrowing of passageway from outer ear to middle ear	0000402
Syndactyly	Webbed fingers or toes	0001159
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Wide anterior fontanel	Wider-than-typical soft spot of skull	0000260

Showing of 131 |

Last updated: 7/1/2020

Cause Cause

Peters plus syndrome is caused by mutations in the B3GLCT gene. The gene provides instructions for making an enzyme which is involved in the complex process of adding sugar molecules to proteins. This process if called glycosylation. When sugar molecules are added to proteins, proteins can perform a wider variety of functions. Mutations in the B3GLCT gene results in a short and nonfunctional enzyme. It is unclear how this leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.^[1]

Last updated: 7/22/2016

Inheritance Inheritance

is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the B3GLCT gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:^[1]

25% (1 in 4) chance to be affected
50% (1 in 2) chance to be an unaffected carrier like each parent
25% (1 in 4) chance to be unaffected and not be a carrier

Last updated: 7/21/2016

Diagnosis Diagnosis

Genetic testing is available for Peters plus syndrome, including carrier screening for at-risk family members and prenatal diagnosis for pregnancies at increased risk, if the disease-causing mutations in the family are known.^[2] To learn more about the various options available to you, we recommend you work with your healthcare provider and/or a genetics professional.

Last updated: 7/21/2016

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

Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended:^[2]

Eye examination
Growth hormone testing
Developmental assessment
Heart examination
Kidney examination
Head examination
Thyroid testing
Hearing assessment

Assessment by an ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. Preservation of vision in the affected eye(s) often requires surgery such as corneal transplantation (penetrating keratoplasty).

Certain medications, such as corticosteroids, should be avoided, as they increase the risk of glaucoma.^[2]

Last updated: 7/22/2016

Prognosis Prognosis

The signs and symptoms of Peters plus syndrome vary greatly from person to person, as does the severity of the disease. There may be an increased risk for miscarriage and stillbirth among mothers of affected children. Additionally, some babies may not survive past infancy due to heart failure or other undetermined causes. However, the lifespan of some individuals with Peters plus syndrome is normal. A health care provider may be able to comment on the extent of the disease of an affected individual and discuss which signs and symptoms in the patient might impact lifespan.^[2]

Last updated: 7/22/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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

Genetics Home Reference (GHR) 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.

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References References

Peters plus syndrome. Genetics Home Reference. September 2013; https://ghr.nlm.nih.gov/condition/peters-plus-syndrome.
Saskia AJ Lesnik Oberstein, MD, PhD, Martine van Belzen, PhD, and Raoul Hennekam, MD, PhD.. Peters Plus Syndrome. GeneReviews. January 23, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1464/.

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