Aminopterin Syndrome Sine Aminopterin; Assa
Description
The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects of the skull, dysmorphic facial features, delayed development, and variable limb defects. The clinical features resemble the embryopathy caused by maternal treatment with the folic acid antagonist aminopterin, which has been recognized since 1952 (Thiersch, 1952) when aminopterin was used as an abortifacient. The characteristic phenotype of the children who survived infancy after having been exposed to aminopterin or its methyl derivative, methotrexate, in early pregnancy included a very unusual facies, skull anomalies, and skeletal defects (summary by Fraser et al., 1987).
Clinical Features
Top most frequent phenotypes and symptoms related to Aminopterin Syndrome Sine Aminopterin; Assa
- Global developmental delay
- Short stature
- Microcephaly
- Hypertelorism
- Micrognathia
- Muscular hypotonia
- Ptosis
- Cleft palate
- Abnormal facial shape
- Cryptorchidism
Incidence and onset information
— Not enough data available about incidence and published cases.
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Alternate names
Aminopterin Syndrome Sine Aminopterin; Assa Is also known as pseudoaminopterin syndrome;assa; aminopterin syndrome-like sine aminopterin.
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