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Results: 3

1.

Joubert syndrome 12

MedGen UID:
479353
Concept ID:
C3277723
Disease or Syndrome
2.

Acrocallosal syndrome, Schinzel type

MedGen UID:
419155
Concept ID:
C2931760
Disease or Syndrome
3.

Acrocallosal syndrome, Schinzel type

Classic Joubert syndrome is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS) . Hypotonia. Developmental delays . Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. The designation Joubert syndrome and related disorders (JSRD) is used to describe individuals with JS who have additional findings including retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]

MedGen UID:
162915
Concept ID:
C0796147
Disease or Syndrome

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