You are using an outdated browser. Please upgrade your browser to improve your experience.

sudden infant death-dysgenesis of the testes syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0012124:  sudden infant death-dysgenesis of the testes syndrome
GARD:0012382: 
MESH:C563856: 
Orphanet:168593: 
UMLS:C1837371: