National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Sudden infant death with dysgenesis of the testes syndrome


Other Names:
SIDDT ; Sudden infant death - dysgenesis of the testes; Sudden infant death-dysgenesis of the testes syndrome
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 168593

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: 12/1/2010

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
Pauses in breathing while sleeping
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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Last updated: 7/1/2020

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.

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

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

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.

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