Sunday, 9 October 2016

Bartsocas-Papas syndrome

Picture shows a baby with Bartsocas-Papas syndrome🚨🏨: a rare, inherited, popliteal pterygium syndrome characterized by:
👉🏽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.
👉🏽genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails).
It is often fatal❌ in the neonatal period, but patients living until childhood have been reported.
The disorder is inherited in an autosomal recessive manner, requiring an abnormal gene from each parent for it to occur.

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