Medicine:Nathalie syndrome
From HandWiki
| 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] |
Nathalie syndrome is a rare genetic developmental defect during embryogenesis disorder[2] and is thought to be hereditary.[3]
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
- ↑ "Natalie Syndrome". Orphanet. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2434&Disease_Disease_Search_diseaseGroup=cataract&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Nathalie-syndrome--Deafness---cataracts---skeletal-anomalies-&title=Nathalie-syndrome--Deafness---cataracts---skeletal-anomalies-&search=Disease_Search_Simple. Retrieved July 4, 2021.
- ↑ 2.0 2.1 "Nathalie syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome.
- ↑ (in en) Developmental Disabilities Abstracts. Developmental Disabilities Office. 1977. pp. 773. https://books.google.com/books?id=Qsp3QNYMufYC&dq=Nathalie+syndrome&pg=PA773.
- ↑ "Nathalie syndrome (Concept Id: C1850626) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/338087.
- ↑ 5.0 5.1 Toriello, Helga V.; Smith, Shelley D. (2013-06-20) (in en). Hereditary Hearing Loss and Its Syndromes. Oxford University Press. pp. 520. ISBN 978-0-19-931388-4. https://books.google.com/books?id=8H9oAgAAQBAJ.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nathalie syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663.
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