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Seckel syndrome


Información en español Title




Other Names:
SCKL; Nanocephalic dwarfism; Seckel-type dwarfism; SCKL; Nanocephalic dwarfism; Seckel-type dwarfism; Bird-headed dwarfism See More
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary


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Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw.[1] About less than 25% of the patients also have blood abnormalities.[2] Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be divided in 8 different subtypes, according to the specific gene alteration (mutation ). Treatment is supportive.[1][3][4]
Last updated: 11/9/2015

Symptoms Symptoms


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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 75 |
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
Craniosynostosis 0001363
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Mild global developmental delay 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
Short stature
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
Glaucoma 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
Scoliosis 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
Autosomal recessive inheritance 0000007
Blepharophimosis
Narrow opening between the eyelids
0000581
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ]
0001321
Cerebellar vermis hypoplasia 0001320
Cleft palate
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 contracture
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 teeth enamel
0006297
Hypoplasia of proximal fibula
Small innermost upper end of calf bone
Underdeveloped innermost upper end of calf bone
[ more ]
0006442
Hypoplasia of proximal radius 0006434
Hypospadias 0000047
Ivory epiphyses
Increased bone density in end part of bone
0010583
Large basal ganglia 0007048
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Microdontia
Decreased width of tooth
0000691
Microglossia
Abnormally small tongue
Underdevelopment of the tongue
[ more ]
0000171
Microphthalmia
Abnormally small eyeball
0000568
Narrow forehead
Decreased width of the forehead
0000341
Pachygyria
Fewer and broader ridges in brain
0001302
Pancytopenia
Low blood cell count
0001876
Pes planus
Flat feet
Flat foot
[ more ]
0001763
Postnatal growth retardation
Growth delay as children
0008897
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
0000448
Proportionate short stature 0003508
Seizure 0001250
Selective tooth agenesis 0001592
Single transverse palmar crease 0000954
Sloping forehead
Inclined forehead
Receding forehead
[ more ]
0000340
Small anterior fontanelle 0000237
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ]
0001518
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Talipes 0001883
Showing of 75 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making 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

  • 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.

Find a Specialist Find a Specialist


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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 MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Seckel syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Seckel syndrome:
    European Society for Immunodeficiencies (ESID) Registry
    Inherited Bone Marrow Failure Syndrome Study (IBMFS)
     

Organizations Organizations


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Support 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

  • Little People of America, Inc.
    617 Broadway #518
    Sonoma, CA 95476
    Toll-free: 1-888-572-2001
    Telephone: +1-714-368-3689
    Fax: +1-707-721-1896
    E-mail: info@lpaonline.org
    Website: https://www.lpaonline.org/
  • The MAGIC Foundation
    4200 Cantera Dr. #106
    Warrenville, IL 60555
    Toll-free: 800-362-4423
    Telephone: 630-836-8200
    Fax: 630-836-8181
    E-mail: contactus@magicfoundation.org
    Website: https://www.magicfoundation.org/
  • Walking With Giants Foundation (WWGF)
    PO BOX 85
    Maghull
    Liverpool
    L31 6WW
    England
    Telephone: 0151 526 0134
    Website: http://walkingwithgiants.org
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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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

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • 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. 
    Seckel syndrome type 1
    Seckel syndrome type 2
    Seckel syndrome type 3
  • 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 Seckel syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Seckel Syndrome 1. Online Mendelian Inheritance in Man. 2015; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210600. Accessed 11/9/2015.
  2. Seckel syndrome. Orphanet. April 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=808. Accessed 11/9/2015.
  3. Verloes A, Drunat S, Gressens P& Passemard S.. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. GeneReviews. October 31, 2013; http://www.ncbi.nlm.nih.gov/pubmed/20301772. Accessed 11/9/2015.
  4. Yigit G & cols. Mutations in CDK5RAP2 cause Seckel syndrome.. Mol Genet Genomic Med. September, 2015; 3(5):467-80. http://www.ncbi.nlm.nih.gov/pubmed/26436113. Accessed 11/9/2015.
Do you know of a review article? We want to hear from you.
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rare disease research!
You can help advance rare disease research!
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