Brachydactyly
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- updated 13 Jan 2023:
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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 2. 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 5 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
- Apert syndrome
- Basal cell naevus syndrome
- Bloom syndrome
- Carpenter syndrome
- Cohen syndrome
- Cooks syndrome 8
- Cornelia de Lange syndrome 7
- Cri-du-chat syndrome
- Down syndrome
- Ehlers-Danlos syndrome
- Fanconi anaemia
- Gorlin-Goltz syndrome
- Holt Oram syndrome
- Roberts syndrome
- Rubinstein-Taybi syndrome
- Turner syndrome 6
- non-syndromic
Differential diagnosis
The differential for other causes of short digits include:
-<p><strong>Brachydactyly (BD) </strong>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 <sup>2</sup>. Single or multiple bones of individual digits, single bones of multiple digits, or multiple bones of different digits may be involved.</p><h4>Pathology</h4><h5>Bell classification of brachydactyly</h5><p>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 <sup>5</sup> 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):</p><ul>-<li>-<strong>type A: </strong>brachymesophalangy<ul>-<li>-<strong>type A1:</strong> <a href="/articles/brachydactyly-type-a1-farabee-type-1">Farabee type</a>-</li>-<li>-<strong>type A2:</strong> <a href="/articles/brachydactyly-type-a2-mohr-wriedt-type">Mohr-Wriedt type</a>-</li>-<li>-<strong>type A3:</strong> <a href="/articles/brachydactyly-type-a3">brachydactyly with </a><a href="/articles/clinodactyly">clinodactyly </a> </li>-<li>-<strong>type A4:</strong><a href="/articles/brachydactyly-type-a4-temtamy-type-1"> </a><a href="/articles/brachydactyly-type-a4-temtamy-type-1">Temtamy type</a>-</li>-<li>-<strong>type A5</strong>: <a href="/articles/brachydactyly-type-a5">Osebold-Remondini syndrome</a>-</li>-<li><strong>type A6</strong></li>-</ul>-</li>-<li><strong>type B</strong></li>-<li>-<strong>type C:</strong> <a href="/articles/haws-type">Haws type</a>-</li>-<li><strong>type D</strong></li>-<li>-<strong>type E:</strong> brachymetacarpia and <a href="/articles/brachymetatarsia">brachymetatarsia</a>-</li>-<li>-<strong>types B </strong>and <strong>E </strong>combined: <a href="/articles/ballard-syndrome">Ballard syndrome </a>or <a href="/articles/pitt-williams-type">Pitt-Williams type</a>-</li>-</ul><h5>Associations</h5><p>Brachydactyly can be either occur in isolation or be associated with syndromic as well as non-syndromic conditions:</p><ul>-<li>-<strong>syndromic</strong><ul>-<li><a href="/articles/aarskog-syndrome">Aarskog syndrome</a></li>-<li><a href="/articles/apert-syndrome">Apert syndrome</a></li>-<li><a href="/articles/gorlin-goltz-syndrome-1">Basal cell naevus syndrome</a></li>-<li><a href="/articles/bloom-syndrome">Bloom syndrome</a></li>-<li><a href="/articles/carpenter-syndrome">Carpenter syndrome</a></li>-<li><a href="/articles/cohen-syndrome">Cohen syndrome</a></li>-<li>-<a href="/articles/cooks-syndrome">Cooks syndrome</a> <sup>8</sup>-</li>-<li>-<a href="/articles/comelia-de-lange-syndrome">Cornelia de Lange syndrome</a><sup> 7</sup>-</li>-<li><a href="/articles/cri-du-chat-syndrome">Cri-du-chat syndrome</a></li>-<li><a href="/articles/down-syndrome">Down syndrome</a></li>-<li><a href="/articles/ehlers-danlos-syndrome-2">Ehlers-Danlos syndrome</a></li>-<li><a href="/articles/fanconi-anaemia">Fanconi anaemia</a></li>-<li><a href="/articles/gorlin-goltz-syndrome-1">Gorlin-Goltz syndrome</a></li>-<li><a href="/articles/holt-oram-syndrome-3">Holt Oram syndrome</a></li>-<li><a href="/articles/roberts-syndrome">Roberts syndrome</a></li>-<li><a href="/articles/rubinstein-taybi-syndrome">Rubinstein-Taybi syndrome</a></li>-<li>-<a href="/articles/turner-syndrome">Turner syndrome</a> <sup>6</sup>-</li>-</ul>-</li>-<li>-<strong>non-syndromic</strong><ul>-<li><a href="/articles/acrodysostosis">acrodysostosis</a></li>-<li><a href="/articles/ankyloglossia-superior">ankyloglossia superior</a></li>-<li><a href="/articles/campomelic-dwarfism-1">campomelic dysplasia</a></li>-<li>-<a href="/articles/hypertension">hypertension</a>: <a href="/articles/autosomal-dominant-hypertension-with-brachydactyly-syndrome">autosomal-dominant hypertension with brachydactyly syndrome </a>-</li>-<li>-<a href="/articles/syndactyly">syndactyly</a>: then termed <a href="/articles/brachysyndactyly">brachydactyly</a>-</li>-</ul>-</li>-</ul><h4>Differential diagnosis</h4><p>The differential for other causes of short digits include:</p><ul>-<li><a href="/articles/pseudohypoparathyroidism">pseudohypoparathyroidism (PHP)</a></li>-<li><a href="/articles/pseudopseudohypoparathyroidism-pphp">pseudopseudohypoparathyroidism (PPHP)</a></li>-<li><a href="/articles/acrodysostosis">acrodysostosis </a></li>- +<p><strong>Brachydactyly (BD) </strong>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 <sup>2</sup>. Single or multiple bones of individual digits, single bones of multiple digits, or multiple bones of different digits may be involved.</p><h4>Pathology</h4><h5>Bell classification of brachydactyly</h5><p>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 <sup>5</sup> 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):</p><ul>
- +<li>
- +<strong>type A: </strong>brachymesophalangy<ul>
- +<li>
- +<strong>type A1:</strong> <a href="/articles/brachydactyly-type-a1-farabee-type-1">Farabee type</a>
- +</li>
- +<li>
- +<strong>type A2:</strong> <a href="/articles/brachydactyly-type-a2-mohr-wriedt-type">Mohr-Wriedt type</a>
- +</li>
- +<li>
- +<strong>type A3:</strong> <a href="/articles/brachydactyly-type-a3">brachydactyly with </a><a href="/articles/clinodactyly">clinodactyly </a> </li>
- +<li>
- +<strong>type A4:</strong><a href="/articles/brachydactyly-type-a4-temtamy-type-1"> </a><a href="/articles/brachydactyly-type-a4-temtamy-type-1">Temtamy type</a>
- +</li>
- +<li>
- +<strong>type A5</strong>: <a href="/articles/brachydactyly-type-a5">Osebold-Remondini syndrome</a>
- +</li>
- +<li><strong>type A6</strong></li>
- +</ul>
- +</li>
- +<li><strong>type B</strong></li>
- +<li>
- +<strong>type C:</strong> <a href="/articles/haws-type">Haws type</a>
- +</li>
- +<li><strong>type D</strong></li>
- +<li>
- +<strong>type E:</strong> brachymetacarpia and <a href="/articles/brachymetatarsia">brachymetatarsia</a>
- +</li>
- +<li>
- +<strong>types B </strong>and <strong>E </strong>combined: <a href="/articles/ballard-syndrome">Ballard syndrome </a>or <a href="/articles/pitt-williams-type">Pitt-Williams type</a>
- +</li>
- +</ul><h5>Associations</h5><p>Brachydactyly can be either occur in isolation or be associated with syndromic as well as non-syndromic conditions:</p><ul>
- +<li>
- +<strong>syndromic</strong><ul>
- +<li><a href="/articles/aarskog-syndrome">Aarskog syndrome</a></li>
- +<li><a href="/articles/apert-syndrome">Apert syndrome</a></li>
- +<li><a href="/articles/gorlin-goltz-syndrome-1">Basal cell naevus syndrome</a></li>
- +<li><a href="/articles/bloom-syndrome">Bloom syndrome</a></li>
- +<li><a href="/articles/carpenter-syndrome">Carpenter syndrome</a></li>
- +<li><a href="/articles/cohen-syndrome">Cohen syndrome</a></li>
- +<li>
- +<a href="/articles/cooks-syndrome">Cooks syndrome</a> <sup>8</sup>
- +</li>
- +<li>
- +<a href="/articles/comelia-de-lange-syndrome">Cornelia de Lange syndrome</a><sup> 7</sup>
- +</li>
- +<li><a href="/articles/cri-du-chat-syndrome">Cri-du-chat syndrome</a></li>
- +<li><a href="/articles/down-syndrome">Down syndrome</a></li>
- +<li><a href="/articles/ehlers-danlos-syndrome-2">Ehlers-Danlos syndrome</a></li>
- +<li><a href="/articles/fanconi-anaemia">Fanconi anaemia</a></li>
- +<li><a href="/articles/gorlin-goltz-syndrome-1">Gorlin-Goltz syndrome</a></li>
- +<li><a href="/articles/holt-oram-syndrome-3">Holt Oram syndrome</a></li>
- +<li><a href="/articles/roberts-syndrome">Roberts syndrome</a></li>
- +<li><a href="/articles/rubinstein-taybi-syndrome">Rubinstein-Taybi syndrome</a></li>
- +<li>
- +<a href="/articles/turner-syndrome">Turner syndrome</a> <sup>6</sup>
- +</li>
- +</ul>
- +</li>
- +<li>
- +<strong>non-syndromic</strong><ul>
- +<li><a href="/articles/acrodysostosis">acrodysostosis</a></li>
- +<li><a href="/articles/ankyloglossia-superior">ankyloglossia superior</a></li>
- +<li><a href="/articles/campomelic-dwarfism-1">campomelic dysplasia</a></li>
- +<li>
- +<a href="/articles/hypertension">hypertension</a>: <a href="/articles/autosomal-dominant-hypertension-with-brachydactyly-syndrome">autosomal-dominant hypertension with brachydactyly syndrome </a>
- +</li>
- +<li>
- +<a href="/articles/syndactyly">syndactyly</a>: then termed <a href="/articles/brachysyndactyly">brachydactyly</a>
- +</li>
- +</ul>
- +</li>
- +</ul><h4>Differential diagnosis</h4><p>The differential for other causes of short digits include:</p><ul>
- +<li><a href="/articles/pseudohypoparathyroidism">pseudohypoparathyroidism (PHP)</a></li>
- +<li><a href="/articles/pseudopseudohypoparathyroidism-pphp">pseudopseudohypoparathyroidism (PPHP)</a></li>
- +<li><a href="/articles/acrodysostosis">acrodysostosis </a></li>
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Case 3: due to brachyphalangia
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