Pseudoaminopterin syndrome
Alternate names
Aminopterin syndrome sine aminopterin; ASSA
Definition
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy 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.
NIH genetic and rare disease info
Pseudoaminopterin syndrome is a rare disease.
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Rare diseases - Pseudoaminopterin syndrome
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