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Microphthalmia-microtia-fetal akinesia syndrome

Disease definition

A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.

ORPHA:2547

Classification level: Disorder
  • Synonym(s):
    • Thomas-Jewett-Raines syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q68.8
  • OMIM: -
  • UMLS: C2931224
  • MeSH: -
  • GARD: 3650
  • MedDRA: -

  A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Polski ()

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

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.