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Disease Profile
Cranioectodermal dysplasia
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
Q87.5
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)
Levin syndrome 1; Sensenbrenner syndrome
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases;
Summary
Orpha Number: 1515
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 diaphysis morphology |
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs
[ more ] |
0000940 |
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Short fingers or toes
|
0001156 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Frontal bossing | 0002007 | |
Microdontia |
Decreased width of tooth
|
0000691 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
0000939 | ||
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Sparse hair | 0008070 | |
30%-79% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
0001363 | ||
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Finger |
0006101 | |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Pectus excavatum |
Funnel chest
|
0000767 |
5%-29% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ] |
0008499 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Taurodontia | 0000679 | |
1%-4% of people have these symptoms | ||
Triphalangeal hallux | 0032612 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the abdominal wall | 0004298 | |
Anodontia |
Failure of development of all teeth
|
0000674 |
0000007 | ||
Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
Broad distal phalanges of all fingers |
Broad outermost hand bones
|
0009880 |
Broad toe |
Wide toe
|
0001837 |
Chronic |
0012622 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Ectodermal dysplasia | 0000968 | |
Fibular hypoplasia |
Short calf bone
|
0003038 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Flattened epiphysis |
Flat end part of bone
|
0003071 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Hepatic cysts |
Liver cysts
|
0001407 |
Hepatic failure |
Liver failure
|
0001399 |
Hepatic fibrosis | 0001395 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Malformation of the hepatic ductal plate | 0006563 | |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
Radial deviation of finger | 0009466 | |
Renal magnesium wasting | 0005567 | |
Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
Sagittal craniosynostosis |
Early closure of midline skull joint
Midline skull joint closes early
[ more ] |
0004442 |
Scaphocephaly |
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
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. Where to Start
In-Depth Information
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