Brachydaktylie

Brachydactyly (BD) essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group, it most commonly involves the middle phalanx . Single or multiple bones of individual digits, single bones of multiple digits, or multiple bones of different digits may be involved.

Pathology

Bell classification of brachydactyly

Different types of brachydactyly are classified according to their clinical and radiographic features of phalangeal or metacarpal involvement. The Bell classification was initially proposed in 1951 and further elaborated by Temtamy et al. in 1978, and at the time of writing (July 2016) is the most widely accepted classification. This classification delineates five major types (A-E):

• type A: brachymesophalangy
  • type A1: Farabee type
  • type A2: Mohr-Wriedt type
  • type A3: brachydactyly with clinodactyly  
  • type A4: Temtamy type
  • type A5: Osebold-Remondini syndrome
  • type A6
• type B
• type C: Haws type
• type D
• type E: brachymetacarpia and brachymetatarsia
• types B and E combined: Ballard syndrome or Pitt-Williams type

Associations

Brachydactyly can be either occur in isolation or be associated with syndromic as well as non-syndromic conditions:

• syndromic
  • Aarskog syndrome
  • Down syndrome
  • Roberts syndrome
  • Rubinstein-Taybi syndrome
  • Apert syndrome
  • Bloom syndrome
  • Basal cell nevus syndrome
  • Carpenter syndrome
  • Ehlers-Danlos syndrome
  • Cri-du-chat syndrome
  • Fanconi anemia
  • Holt Oram syndrome
  • Cohen syndrome
  • Gorlin-Goltz syndrome
  • Turner syndrome 
  • Cornelia de Lange syndrome
  • Cooks syndrome
• non-syndromic
  • hypertension: autosomal-dominant hypertension with brachydactyly syndrome
  • syndactyly: then termed brachydactyly
  • ankyloglossia superior
  • campomelic dysplasia
  • acrodysostosis

Differential diagnosis

The differential for other causes of short digits include:

• pseudohypoparathyroidism (PHP)
• pseudopseudohypoparathyroidism (PPHP)
• acrodysostosis

Siehe auch:

• Brachymesophalangie
• Brachyphalangie
• Pseudohypoparathyreoidismus
• Weill-Marchesani-Syndrom
• Du Pan-Syndrom

und weiter:

• obstetric curriculum
• cyllosoma
• Syndaktylie
• Klinodaktylie
• Roberts-Syndrom
• antenatal features of Down syndrome
• Brachytelephalangie
• Akrorenales Syndrom
• Cornelia-de-Lange-Syndrom
• kongenitale Anomalien der Finger
• Aarskog-Syndrom
• Oligodaktylie
• Polysyndaktylie
• Catel-Manzke-Syndrom
• Pseudoaminopterin-Syndrom
• short thumb phalanx
• short distal phalanx of the thumb
• Symbrachydaktylie