Preferred Label : Pseudoaminopterin syndrome;
ICD-11 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.;
Origin ID : 893045173;
Automatic exact mappings (from CISMeF team)
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.
