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

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

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.

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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	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	Abnormal curving of the spine	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 Simple 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		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
Seizures	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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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

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 Genetics Home Reference.

Research Research

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

Organizations Organizations

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/

Do you know of an organization? We want to hear from you.

Living With Living With

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

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.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

GARD Answers GARD Answers

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

Seckel Syndrome 1. Online Mendelian Inheritance in Man. 2015; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210600. Accessed 11/9/2015.
Seckel syndrome. Orphanet. April 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=808. Accessed 11/9/2015.
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.
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.