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Disease Profile
Progeroid syndrome Petty type
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
E34.8
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)
Progeroid syndrome congenital Petty type; Petty Laxova Wiedemann syndrome
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Orpha Number: 2963
Symptoms
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 | ||
Abnormal dermatoglyphics |
Abnormal fingerprints
|
0007477 |
Abnormality of the nail | 0001597 | |
Brittle hair | 0002299 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Failure to thrive |
Weight faltering
Faltering weight
[ more ] |
0001508 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Long eyelashes in irregular rows | 0007740 | |
Low-set, posteriorly rotated ears | 0000368 | |
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 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Reduced subcutaneous adipose |
Reduced fat tissue below the skin
|
0003758 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
Shagreen patch | 0009721 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Small stature
Decreased body height
[ more ] |
0004322 | |
Sparse hair | 0008070 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Umbilical hernia | 0001537 | |
Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
1%-4% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Aplastic/hypoplastic lacrimal glands |
Absent/underdeveloped tear glands
|
0008038 |
Brachycephaly |
Short and broad skull
|
0000248 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Coronal |
0004440 | |
Dermal translucency | 0010648 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Hypertrichosis | 0000998 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Premature skin wrinkling | 0100678 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Small nail |
Small nails
|
0001792 |
Webbed fingers or toes
|
0001159 | |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
Absent nipple |
Absent nipples
|
0002561 |
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 |
0000006 | ||
Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Cerebellar vermis hypoplasia | 0001320 | |
Coarse hair |
Coarse hair texture
|
0002208 |
Symptoms present at birth
|
0003577 | |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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
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