Infantile spasms-broad thumbs syndrome

Orpha code: 3173OMIM code:

Definition

Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.

Disease data
Classification

Disease

Synonyms
Tsao-Ellingson syndrome
Zespół Tsao i Ellingsona
ORPHA code
3173
OMIM code
-
ICD10 code
G40.4
ICD11 code
-

No additional description.

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