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Pseudoaminopterin syndrome

Disease 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.

ORPHA:221120

Classification level: Disorder
  • Synonym(s):
    • ASSA
    • Aminopterin syndrome-like sine aminopterin
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q82.0
  • ICD-11: LD24.GY
  • OMIM: 600325
  • UMLS: C0795939
  • MeSH: C535823
  • GARD: 4544
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.