Infantile spasms-broad thumbs syndrome
| Infantile spasms-broad thumbs syndrome | |
|---|---|
| Other names | Tsao-Ellingson syndrome |
 | |
| Specialty | Medical genetics |
| Causes | Autosomal recessive inheritance |
| Prevention | none |
| Prognosis | Bad |
| Frequency | very rare, only 2 cases have been reported. |
| Deaths | at least one. |
Infantile spasms-broad thumbs syndrome, also known as Tsao Ellingson syndrome,[1] is a very rare and deadly hereditary disorder which is characterized by severe developmental delays, microcephaly, large anterior fontanel, hypertelorism, down-slanting eyes, beaked nose, micrognathia, broad thumbs and big toes, and flexion/extension spasms.[2][3] Additional features include agenesis of the corpus callosum, bilateral cataracts, hypertrophic cardiomyopathy, mild brain wasting, ventriculomegaly, and hydrocele.[4][5]
It was first discovered in April 1990, when Chang Y Tsao and Robert J Ellingson described two brothers born to first cousin parents, the first-born baby had all of the symptoms mentioned above (including the additional ones), he was treated with valproate and lorazepam until he died when he was nearly 2 years old (20 months old), the second-born baby was born when he was 36 weeks (gestation) old, and he presented (almost) the same symptoms mentioned above, when he was 6 months old, he started developing mixed flexion and extension spasms. They concluded that this was part of a brand new, autosomal recessive syndrome.[6]
References
[edit]- ^ "Infantile spasms broad thumbs". NORD (National Organization for Rare Disorders). Retrieved 2022-05-31.
- ^ "OpenCodelists". www.opencodelists.org. Retrieved 2022-05-31.
- ^ "Infantile spasms broad thumbs - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-31.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Infantile spasms broad thumbs syndrome". www.orpha.net. Retrieved 2022-05-31.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Infantile spasms-broad thumbs syndrome (Concept Id: CN203849) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-31.
- ^ Tsao, Chang Y.; Ellingson, Robert J. (April 1990). "Infantile Spasms in Two Brothers with Broad Thumbs Syndrome". Clinical Electroencephalography. 21 (2): 93–95. doi:10.1177/155005949002100209. ISSN 0009-9155. PMID 2335044. S2CID 43220180.
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