Congenital contractural arachnodactyly

Description

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterised by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the elbow, knee, and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in MFS.

Index terms

Congenital contractural arachnodactyly
Arachnodactyly
Beals syndrome

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Distal arthrogryposis type 9

Exclusions from above levels

EC40 – Pseudoxanthoma elasticum
EE41.0 – Cutis laxa
http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD28.01 – Marfan syndrome
LD28.0Y – Other specified Marfan syndrome or Marfan-related disorders
LD28.0Z – Marfan syndrome or Marfan-related disorders, unspecified

Foundation entity

Congenital contractural arachnodactyly – http://id.who.int/icd/entity/1376425921

Allowed postcoordination axes

Part of: LD28.0: Marfan syndrome or Marfan-related disorders › LD28: Syndromes with connective tissue involvement as a major feature › 20: Developmental anomalies