Sudden infant death with dysgenesis of the testes syndrome

Title

Other Names:

SIDDT ; Sudden infant death - dysgenesis of the testes; Sudden infant death-dysgenesis of the testes syndrome

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Kidney and Urinary Diseases; Lung Diseases See More

This disease is grouped under:

Sudden infant death syndrome

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 168593

Disease definition

Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

Epidemiology

SIDDT syndrome has been described in 21 infants from nine separate sibships among the Old Order Amish.

Clinical description

Infants with SIDDT syndrome appear normal at birth except that they are often recognized by the unusual staccato sound of their cry. Within the first months of life, they develop signs of viscera-autonomic nerve dysfunction including bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. XY males have testicular dysgenesis and ambiguous genitalia. Female sexual development is normal.

Etiology

SIDDT syndrome is caused by homozygous mutation in the testis-specific protein Y-like-1 gene, TSPYL1 on chromosome 6 (6q22.1-q22.31).

Genetic counseling

The syndrome follows an autosomal recessive pattern of inheritance.

Prognosis

Prognosis is very poor: infants die before 12 months of age of sudden cardiorespiratory arrest.

Visit the Orphanet disease page for more resources.

Last updated: 12/31/2010

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
Abnormal autonomic nervous system physiology		0012332
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Cardiac arrest	Heart stops beating	0001695
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hypoplasia of penis	Underdeveloped penis	0008736
Hypothermia	Abnormally low body temperature	0002045
Scrotal hypoplasia	Smaller than typical growth of scrotum	0000046
Sleep apnea		0010535
30%-79% of people have these symptoms
Abnormality of the voice	Voice abnormality	0001608
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Myoclonus		0001336
Ophthalmoplegia	Eye muscle paralysis	0000602
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Abnormality of the eye	Abnormal eye	0000478
Ambiguous genitalia, male	Ambiguous genitalia in males	0000033
Apnea		0002104
Autosomal recessive inheritance		0000007
Bradycardia	Slow heartbeats	0001662
Bronchospasm		0025428
Cardiorespiratory arrest		0006543
Dysplastic testes		0008733
Feeding difficulties in infancy		0008872
Laryngospasm		0025425
Partial development of the penile shaft		0008708
Staccato cry		0025431
Stridor		0010307
Testicular dysgenesis		0008715
Tongue fasciculations	Tongue twitching Twitching of the tongue [ more ]	0001308

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

Last updated: 11/1/2018

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.

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 Providing General Support

Compassionate Friends
P.O. Box 3696
Oak Brook, IL 60522-3696
Toll-free: 877-969-0010
Telephone: 630-990-0010
Fax: 630-990-0246
E-mail: nationaloffice@compassionatefriends.org
Website: http://www.compassionatefriends.org
SHARE - Pregnancy and Infant Loss Support, Inc.
402 Jackson Street
Saint Charles, MO 63301-3468
Telephone: 800-821-6819
E-mail: info@nationalshare.org
Website: http://www.nationalshare.org/

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

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

Genetics Home Reference (GHR) contains information on Sudden infant death with dysgenesis of the testes syndrome. This website is maintained by the National Library of Medicine.

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.
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 Sudden infant death with dysgenesis of the testes syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

National Family Health History Day
November 20, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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