Misplaced Pages

Infantile spasms-broad thumbs syndrome

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
(Redirected from Tsao–Ellingson syndrome)
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (May 2022)
Medical condition
Infantile spasms-broad thumbs syndrome
Other namesTsao-Ellingson syndrome
SpecialtyMedical genetics
CausesAutosomal recessive inheritance
Preventionnone
PrognosisBad
Frequencyvery rare, only 2 cases have been reported.
Deathsat least one.

Infantile spasms-broad thumbs syndrome, also known as Tsao Ellingson syndrome, 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. Additional features include agenesis of the corpus callosum, bilateral cataracts, hypertrophic cardiomyopathy, mild brain wasting, ventriculomegaly, and hydrocele.

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.

References

  1. "Infantile spasms broad thumbs". NORD (National Organization for Rare Disorders). Retrieved 2022-05-31.
  2. "OpenCodelists". www.opencodelists.org. Retrieved 2022-05-31.
  3. "Infantile spasms broad thumbs - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-31.
  4. 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)
  5. "Infantile spasms-broad thumbs syndrome (Concept Id: CN203849) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-31.
  6. 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.


Stub icon

This genetic disorder article is a stub. You can help Misplaced Pages by expanding it.

Categories: