Nathalie syndrome

Nathalie syndrome is a rare genetic developmental defect during embryogenesis disorder[2] and is thought to be hereditary.[3]

Nathalie syndrome
Other namesDeafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics
SymptomsSensorial hearing loss, childhood onset cataracts, cardiac abnormalities, skeletal abnormalities underdeveloped secondary sex characteristics, spinal muscular atrophy, growth retardation[1]

In 1975 a physician described four siblings in a Dutch family[4] with symptoms of the condition; the condition was named after the oldest sibling.[5]

According to Orphanet, the condition occurs in 1 in 1 million people.[6]

Children with this condition appear younger than their age. Nathalie syndrome can cause disability and death around early or mid adulthood.[5] Sudden death, cardiomyopathy, and heart failure have been reported in some cases.[2]

References
  1. "Natalie Syndrome". Orphanet. Retrieved July 4, 2021.
  2. "Nathalie syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-04-18.
  3. Developmental Disabilities Abstracts. Developmental Disabilities Office. 1977. p. 773.
  4. "Nathalie syndrome (Concept Id: C1850626) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-11-04.
  5. Toriello, Helga V.; Smith, Shelley D. (2013-06-20). Hereditary Hearing Loss and Its Syndromes. Oxford University Press. p. 520. ISBN 978-0-19-931388-4.
  6. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nathalie syndrome". www.orpha.net. Retrieved 2021-11-04.
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