Freeman Sheldon syndrome
Updates to Article Attributes
Body
was changed:
Freeman Sheldon syndrome (FSS) (also, also known asdistal arthrogryposis type IIa), is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is also sometimes known as the whistling face syndrome.
Pathology
Genetics
It is thought to carry an autosomal dominant inheritance in most cases with occasional sporadic and autosomal recessive forms.
Clinical features
The clinical spectrum includes
-
cranio-facial:
- long philtrum
- mouth puckering
- microstomia
- H-shaped chin dimple
- orbital features
- hypotelorism 8:
- drooping of the upper eyelids :
- strabismus:
- low-set ears
- gradual hearing loss
- microcephaly
-
musculoskeletal:
- arthrogryposis: joint contractures often tends to be severe
- camptodactyly
- ulnar deviation
- equinovarus
- congenital kyphoscoliosis
- club feet
Pathology
Genetics
It is thought to carry an autosomal dominant inheritance in most cases with occasional sporadic and autosomal recessive forms.
History and etymology
It was initially described by E A Freeman and J H sheldonSheldon in 1938 6
-<p><strong>Freeman Sheldon syndrome (FSS)</strong> (also known as <strong>distal arthrogryposis type IIa</strong>) is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is also sometimes known as the <strong>whistling face syndrome</strong>.</p><h4>Pathology</h4><h5>Genetics</h5><p>It is thought to carry an autosomal dominant inheritance in most cases with occasional sporadic and autosomal recessive forms.</p><h4>Clinical features</h4><p>The clinical spectrum includes</p><ul><li>-<strong>cranio-facial:</strong><ul>- +<p><strong>Freeman Sheldon syndrome (FSS)</strong>, also known as <strong>distal arthrogryposis type IIa</strong>, is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is also sometimes known as the <strong>whistling face syndrome</strong>.</p><h4>Clinical features</h4><p>The clinical spectrum includes</p><ul>
- +<li>cranio-facial:<ul>
-<li><a href="/articles/microcephaly">microcephaly</a></li>- +<li>
- +<a href="/articles/microcephaly">microcephaly</a> </li>
-</li></ul><ul><li>-<strong>musculoskeletal</strong><ul>- +</li>
- +<li>musculoskeletal:<ul>
-</li></ul><h4>History and etymology</h4><p>It was initially described by <strong>E A Freeman</strong> and <strong>J H sheldon </strong>in 1938 <sup>6</sup></p>- +</li>
- +</ul><h4>Pathology</h4><h5>Genetics</h5><p>It is thought to carry an autosomal dominant inheritance in most cases with occasional sporadic and autosomal recessive forms.</p><h4>History and etymology</h4><p>It was initially described by <strong>E A Freeman</strong> and <strong>J H Sheldon </strong>in 1938 <sup>6</sup></p>