Short rib polydactyly syndrome
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Short rib polydactyly syndrome(s) (SRPS) comprise of a rare group of severe osteochondrodysplasias. There are four major recognised types present:
- type I: Saldino-Noonan type
- type II:: Majewski type
- type III: Verma-Naumoff type
- type IV: Beemer-Langer type
There may also be other very rare types described, such as 9:
Clinical features
While there is some variation in the clinical spectrum, they can be collectively characteristedcharacterised by 2-3:
- short-limb dysplasia/micromelia
- narrow fetal thorax (with short ribs)
- polydactyly
Pathology
Genetics
Collectively, most cases carry an autosomal recessive inheritance.
Associations
Multiple anomalies of major organs are common 5. These include
Treatment and prognosis
SRPSs are lethal anomalies and management is often supportive.
See also
- skeletal dysplasias
- lethal skeletal dysplasias
- Jeune syndrome: occasionally characterised as a SRPS reference required
-<p><strong>Short rib polydactyly syndrome(s) (SRPS) </strong>comprise of a rare group of severe <a href="/articles/skeletal-dysplasia">osteochondrodysplasias</a>. There are four major recognised types present:</p><ul>- +<p><strong>Short rib polydactyly syndrome(s) (SRPS) </strong>comprise a rare group of severe <a href="/articles/skeletal-dysplasia">osteochondrodysplasias</a>. There are four major recognised types present:</p><ul>
-<li><a href="/articles/maartinez-frias-type">Maartinez-Frias type</a></li>- +<li><a href="/articles/maartinez-frias-type">Martinez-Frias type</a></li>
-</ul><h4>Clinical features</h4><p>While there is some variation in clinical spectrum, they can be collectively characteristed by <sup>2-3</sup>:</p><ul>- +</ul><h4>Clinical features</h4><p>While there is some variation in the clinical spectrum, they can be collectively characterised by <sup>2-3</sup>:</p><ul>
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