Ablepharon macrostomia syndrome
Updates to Article Attributes
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Ablepharon-macrostomia macrostomia syndrome is a very rare genetic disorder depictedcharacterized by macrostomia or wide/wide mouth and microblepharon and underdeveloped/underdeveloped eyelids.
Clinical presentation
A few of the clinical features of this syndrome are:
- low set and posteriorly attached ear lobes
- syndactyly
- protruding cheeks
- very small-sized nipples
- wrinkles on the face
- genital malformations
- growth delay
Pathology
It is an autosomal dominant disorder and associated with TWIST2 gene mutation.
Treatment and prognosis
Current adopted treatment includes eye drops for corneal clouding, reconstruction surgery and psycho-social support for children.
Differential diagnosis
-<p>Ablepharon-macrostomia syndrome is a very rare genetic disorder depicted by macrostomia or wide mouth and microblepharon and underdeveloped eyelids.</p><h4>Clinical presentation</h4><ul>- +<p>Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia/wide mouth and microblepharon/underdeveloped eyelids.</p><h4>Clinical presentation</h4><p>A few of the clinical features of this syndrome are:</p><ul>
-</ul><h4>Pathology</h4><p>It is an autosomal dominant disorder and associated with <em>TWIST2</em> gene mutation.</p>- +</ul><h4>Pathology</h4><p>It is an autosomal dominant disorder and associated with <em>TWIST2</em> gene mutation.</p><h4>Treatment and prognosis</h4><p>Current adopted treatment includes eye drops for corneal clouding, reconstruction surgery and psycho-social support for children.</p><h4>Differential diagnosis</h4><ul>
- +<li><a href="/articles/barber-say-syndrome-bss">Barber-Say syndrome (BSS)</a></li>
- +<li><a href="/articles/setleis-syndrome">Setleis syndrome </a></li>
- +</ul>
References changed:
- 1. De Maria B, Mazzanti L, Roche N, Hennekam R. Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: An Overview. Am J Med Genet. 2016;170(8):1989-2001. <a href="https://doi.org/10.1002/ajmg.a.37757">doi:10.1002/ajmg.a.37757</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27196381">Pubmed</a>
- 1. De Maria B, Mazzanti L, Roche N, Hennekam R. Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: An Overview. Am J Med Genet. 2016;170(8):1989-2001. <a href="https://doi.org/10.1002/ajmg.a.37757">doi:10.1002/ajmg.a.37757</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27196381">Pubmed</a>
- 1. De Maria B, Mazzanti L, Roche N, Hennekam R. Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: An Overview. Am J Med Genet. 2016;170(8):1989-2001. <a href="https://doi.org/10.1002/ajmg.a.37757">doi:10.1002/ajmg.a.37757</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27196381">Pubmed</a>
- https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/
- 1. Ablepharon-Macrostomia Syndrome - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders)
Systems changed:
- Paediatrics
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