Sudden Infant Death with Dysgenesis of the Testes Syndrome

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OMIM 57 608800 Orphanet 59 ORPHA168593 UMLS via Orphanet 74 C1837371 ICD10 via Orphanet 34 G90.8

MedGen 42 C1837371 SNOMED-CT via HPO 69 258211005 204878001 204912007 21321009 19416009 371405004 371409005 16110005 405946002 249878001 127324008 17450006 276617005 444896005 59576002 48867003 397829000 410429000 16331000 235595009 698065002 386689009 1023001 248583008 15241006 410430005 253847002 34911001 248573009 70407001 73430006 more UMLS 73 C1837371

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168593Disease definitionSudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.EpidemiologySIDDT syndrome has been described in 21 infants from nine separate sibships among the Old Order Amish.Clinical descriptionInfants 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.EtiologySIDDT syndrome is caused by homozygousmutation in the testis-specific protein Y-like-1 gene, TSPYL1 on chromosome 6 (6q22.1-q22.31).Genetic counselingThe syndrome follows an autosomal recessive pattern of inheritance.PrognosisPrognosis is very poor: infants die before 12 months of age of sudden cardiorespiratory arrest.Visit the Orphanet disease page for more resources.

MalaCards based summary : Sudden Infant Death with Dysgenesis of the Testes Syndrome, is also known as siddt, and has symptoms including stridor An important gene associated with Sudden Infant Death with Dysgenesis of the Testes Syndrome is TSPYL1 (TSPY Like 1). Affiliated tissues include testes, testis and tongue, and related phenotypes are cryptorchidism and scrotal hypoplasia

Genetics Home Reference : ²⁵ Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.

UniProtKB/Swiss-Prot : ⁷⁵ Sudden infant death with dysgenesis of the testes syndrome: Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat.

Description from OMIM: 608800

Clinical features from OMIM:

608800

Search Clinical Trials , NIH Clinical Center for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Search GEO for disease gene expression data for Sudden Infant Death with Dysgenesis of the Testes Syndrome.