Pseudoaminopterin syndrome

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Synonyms: ASSA | Aminopterin syndrome-like sine aminopterin

Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault) dysmorphic (ocular hypertelorism palpebral fissure anomalies micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly syndactyly and clinodactyly) anomalies associated with mild-to-moderate intellectual deficit and short stature.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Pseudoaminopterin syndrome?

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