autosomal recessive cutis laxa type III

Term ID

DOID:0070143

Synonyms

• cutis laxa-corneal clouding-intellectual disability syndrome
• De Barsy syndrome

Definition

A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. https://www.ncbi.nlm.nih.gov/pubmed/18388779

References

• GARD:49
• MESH:C535990
• ORDO:2962
• SNOMEDCT_US_2023_03_01:238826008
• UMLS_CUI:C0268354

(all 5)

Ontology

Human Disease   ( DOID:0070143 )