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Disease Profile
Peters plus syndrome
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Peters anomaly with short limb dwarfism; Krause-Kivlin syndrome
Categories
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
Summary
Peters plus
Symptoms
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/orintellectual disability Cleft lip and/orcleft 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
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 |
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 | |
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 | |
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 | |
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 |
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 |
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 |
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
[
Specialists involved in the care of someone with Peters plus syndrome may include: 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. Rare Rheumatology News |