Minimalform Polydaktylie

Atypisch

geformtes Endglied des Daumens links und rechts mit Ausbildung zweier Nagelkränze und Lochbildung dazwischen; Minimalform einer Polydaktylie?

Wikipedia • CC BY-SA 4.0

Atypisch

geformter Nagelkranz 2. Zehe mit zwei Enden; Minimalform einer Polydaktylie?

Wikipedia • CC BY-SA 4.0

Novel cAMP

binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. This hand wrist radiograph was made when she was 14 years old. The arrow shows a duplication of terminal phalanx of the thumb.

bmcmedgenet.biomedcentral.com • CC-by-2.0

Lizenz: CC BY-SA 4.0

Minimalform Polydaktylie

Polydaktylie Radiopaedia • CC-by-nc-sa 3.0 • de

Polydactyly (less commonly called hyperdactyly) refers to the situation where there are more than the usual number of digits (five) in a hand or foot. It can be broadly classified as:

preaxial polydactyly: extra digit(s) towards the thumb/hallux (radially)
postaxial polydactyly: extra digit(s) towards little finger/toe (ulnar)
central polydactyly: middle three digits are involved

Epidemiology

Estimated incidence is different for pre and postaxial polydactyly :

postaxial: ~1 in 3000
preaxial: ~1 in 7000

Central polydactyly is the rarest encountered.

In addition, there may be a greater prevalence in individuals of African descent (particularly for postaxial polydactyly) .

Pathology

Associations

A large proportion of polydactyly is isolated although they can be associated with an immense amount of anomalies which include:

aneuploidic syndromic
- trisomy 13: tends to give postaxial polydactyly
non-aneuploidic syndromic
- Bardet-Biedl syndrome: often postaxial
- Carpenter syndrome
- fetal valproate syndrome
- hydrolethalus syndrome
- Joubert syndrome
- Juberg-Hayward syndrome
- Lhermitte duclos disease
- Meckel Gruber syndrome: tends to be postaxial
- McKusick-Kaufman syndrome: postaxial
- megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome
- oral-facial-digital syndromes
  - oral-facial-digital syndrome (OFDS) type II - Mohr syndrome: postaxial
  - oral-facial-digital syndrome (OFDS) type VI: postaxial
- Pallister-Hall syndrome
- short rib polydactyly syndrome(s)
- skeletal dysplasias
  - asphyxiating thoracic dysplasia
  - Ellis-van Creveld syndrome - chondroectodermal dysplasia
- Smith-Lemli-Opitz syndrome
- VACTERL association
non-aneuploidic, non-syndromic
- macrodystrophia lipomatosa
- syndactyly: most common associated limb anomaly, it is then termed polysyndactyly

Significance

If it is an isolated anomaly it is incidental and not of concern but if associated with another anomaly it then carries a vastly variable prognosis dependent on the rest of the syndrome.

Radiographic features

Other than describing polydactyly based on the position of the accessory digit, it can also be described by the number of total digits e.g. hexadactyly (six digits), or even, heptadactyly (seven digits). Indeed the presence of seven individual digits is exceedingly rare but has been reported twice .

Whilst radiology has little role in the diagnosis of polydactyly it is important in two ways:

assessment of the remainder of the skeleton (if appropriate) for other skeletal anomalies, and as such aiding in the diagnosis on an underlying syndrome (which in turn may point to additional unsuspected anomalies, and allow for genetic counseling etc.)

assess the local anatomy to aid in surgical planning. Of particular importance is the anatomy of the 'normal' digits and the relationship of the extra digit to the adjacent bones and joints.

History and etymology

The term "polydactyly" is derived from the Greek words "πολύς - polus" (many) and "δάκτυλος - daktulos" (finger).

Siehe auch: