Nathalie syndrome is a rare genetic developmental defect during embryogenesis disorder[2] and is thought to be hereditary.[3]
| Nathalie syndrome | |
|---|---|
| Other names | Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics |
| Symptoms | Sensorial 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
edit- ^ "Natalie Syndrome". Orphanet. Retrieved July 4, 2021.
- ^ a b "Nathalie syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-04-18.
- ^ Developmental Disabilities Abstracts. Developmental Disabilities Office. 1977. p. 773.
- ^ "Nathalie syndrome (Concept Id: C1850626) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-11-04.
- ^ a b 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.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nathalie syndrome". www.orpha.net. Retrieved 2021-11-04.
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