FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Van Maldergem syndrome ID (Ontology) DOID:0060238 (Human Disease)
Definition A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
Also Known As "cerebro-facio-articular syndrome"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Van Maldergem syndrome       1      1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Van Maldergem syndrome  7 rec.
                                  |__Van Maldergem syndrome 1 2 rec.
                                  |__Van Maldergem syndrome 2 6 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "cerebro-facio-articular syndrome" EXACT
Secondary IDs
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GARD:5456
MESH:C536530
MIM:PS601390
ORDO:314679
SNOMEDCT_US_2023_03_01:763353000
UMLS_CUI:C1832390