Preferred Label : pseudoaminopterin syndrome;
Définition CISMeF : 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.;
CISMeF acronym : ASSA;
MeSH synonym : aminopterin syndrome sine aminopterin;
Origin ID : C535823;
UMLS CUI : C0795939;
Automatic exact mappings (from CISMeF team)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- MeSH term(s) associated for indexing
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
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.
