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

• NIH info on Pseudoaminopterin syndrome

Pseudoaminopterin syndrome is a rare disease.

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