Infantile spasms-broad thumbs syndrome

MedGen UID:: 1667345
•Concept ID:: C4749287
•: Disease or Syndrome

Synonyms:	Infantile spasm and broad thumb syndrome; infantile spasms broad thumbs; Infantile spasms, broad thumbs syndrome; infantile spasms-broad thumbs syndrome; Tsao Ellingson syndrome; Tsao-Ellingson syndrome
SNOMED CT:	Infantile spasms, broad thumbs syndrome (770438007); Infantile spasm and broad thumb syndrome (770438007); Tsao Ellingson syndrome (770438007)

Monarch Initiative:	MONDO:0017852
Orphanet:	ORPHA3173

Definition

A rare neurologic disorder characterised by profound developmental delay, facial dysmorphism (including microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocoele 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. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInfantile spasms-broad thumbs syndrome

Disorder by Site
- Disorder of nervous system
  - Disorder of the central nervous system
    - Brain disorder
      - Epilepsy
        Epilepsy syndrome
        Infantile spasms-broad thumbs syndrome

Recent clinical studies

Diagnosis

Facial and physical features of Aicardi syndrome: infants to teenagers.

Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB
Am J Med Genet A 2005 Oct 15;138A(3):254-8. doi: 10.1002/ajmg.a.30963. PMID: 16158440

An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

Plomp AS, Reardon W, Benton S, Taylor D, Larcher VF, Sundrum R, Winter RM
Clin Dysmorphol 2000 Jul;9(3):189-92. doi: 10.1097/00019605-200009030-00007. PMID: 10955479

RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.

Kääriäinen H, Ryöppy S, Norio R
Am J Med Genet 1989 Jul;33(3):346-51. doi: 10.1002/ajmg.1320330312. PMID: 2801769

See all (3)