Sunday, 9 October 2016

Bartsocas-Papas syndrome



Picture shows a baby with Bartsocas-Papas syndrome🚨🏨: a rare, inherited, popliteal pterygium syndrome characterized by:
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👉🏽Severe popliteal webbing.
👉🏽 Microcephaly, a typical face with short palpebral fissures.
👉🏽ankyloblepharon (fusion of part or all of the eyelid margins).
👉🏽hypoplastic nose.
👉🏽filiform bands between the jaws and facial clefts.
👉🏽oligosyndactyly.
👉🏽genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails).
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It is often fatal❌ in the neonatal period, but patients living until childhood have been reported.
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The disorder is inherited in an autosomal recessive manner, requiring an abnormal gene from each parent for it to occur.
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