Term
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Definition
| presents with the triad of conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia due to parathyroid hypoplasia due to a defective development of the 3rd and 4th pharyngeal pouches, and a cleft palate, signs of immunocompromise (recurrent viral and fungal infections), most commonly due to a chromosome 22q11.2 deletion. |
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Term
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Definition
| presents with craniofacial dysmorphism, cirrhosis and biliary dysgenesis. It is caused by mutations in genes that encode peroxin proteins, those needed to assemple peroxisomes. Mutations are identified as PEX1, PEX2, PEX3, etc. |
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Term
| Treacher Collins Syndrome |
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Definition
| the result of the failure of the first neural crest to migrate causing most notably mandibular hypoplasia. |
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Term
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Definition
| an inherited defect of the immune system of multiple causes but most commonly defective IL-2 receptor and adenosine deaminase deficiency. This deficiency prevents the synthesis of DNA and thus decreases the lymphocyte count. Patients may have an absence of a thymic shadow which can also be seen in DiGeorge syndrome and they will also present with increased infections. They however do not typically present with heart defects or hypocalcemia. |
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