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Disease Profile
Seckel 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
Antenatal
ICD-10
Q87.1
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)
SCKL; Nanocephalic dwarfism; Seckel-type dwarfism;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Seckel
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 | ||
Cachexia |
Wasting syndrome
|
0004326 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
0001363 | ||
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Mild global |
0011342 | |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Absent earlobe |
Earlobe, absent
Lobeless ears
[ more ] |
0000387 |
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
0000501 | ||
Hip dysplasia | 0001385 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
5%-29% of people have these symptoms | ||
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
0002650 | ||
1%-4% of people have these symptoms | ||
High pitched voice | 0001620 | |
Percent of people who have these symptoms is not available through HPO | ||
11 pairs of ribs | 0000878 | |
Abnormal finger flexion creases | 0006143 | |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Abnormally large globe |
Increased size of eyes
Large eyes
[ more ] |
0001090 |
0000007 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Cerebellar vermis hypoplasia | 0001320 | |
Cleft roof of mouth
|
0000175 | |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
Dislocated radial head | 0003083 | |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Few cafe-au-lait spots | 0007429 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Heart murmur |
Heart murmurs
|
0030148 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Hyperactivity |
More active than typical
|
0000752 |
Hypoplasia of dental enamel |
Underdeveloped t
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
References
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