Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms ASSA ASSA Zespół podobny do zespołu aminopterynowego bez aminopteryny Aminopterin syndrome-like sine aminopterin ORPHA code 221120 OMIM code 600325 ICD10 code Q82.0 ICD11 code LD24.GY *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl