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sudden infant death with dysgenesis of the testes syndrome (SIDDT)
Pathology:
- genotypic males with SIDDT have fetal testicular dysgenesis & ambiguous genitalia -intraabdominal testes, dysplastic testes, deficient fetal t testosterone production, fusion & rugation of gonadal sac, partial development of penile shaft
- female sexual development is normal
Genetics:
- autosomal recessive disorder
- associated with defects in TSPYL1 gene
Clinical manifestations:
- affected infants appear normal at birth
- signs of visceroautonomic dysfunction early in life
- die before 12 months of age of abrupt cardiopulmonary arrest
- bradycardia
- hypothermia
- severe gastroesophageal reflux
- laryngospasm
- bronchospasm
- abnormal cardiorespiratory patterns during sleep
- unusual staccato cry, similar to the cry of a goat
General
genetic syndrome (multisystem disorder)
sudden infant death syndrome (SIDS); includes; accidental infant strangulations & suffocations
Database Correlations
OMIM 608800
References
OMIM :accession 608800