Embryofetopathy due to maternal phenylketonuria (Q39987)
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Maternal phenylalaninaemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-oesophageal abnormalities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.02 |
||
| English | Embryofetopathy due to maternal phenylketonuria |
Maternal phenylalaninaemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-oesophageal abnormalities. |
Statements
CID11:5C50.02
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dki-india-5C50.02
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Concluído
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13 August 2026
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