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Splenogonadal fusion-limb defects-micrognathia syndrome

Disease definition

A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.

ORPHA:2063

Classification level: Disorder
  • Synonym(s):
    • SGFLD syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 183300
  • UMLS: C1866745
  • MeSH: -
  • GARD: 4963
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017) Polski ()

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.