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Microcephaly-cardiac defect-lung malsegmentation syndrome

Disease definition

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.

ORPHA:2516

Classification level: Disorder
  • Synonym(s):
    • Ellis-Yale-Winter syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 601355
  • UMLS: C2931129
  • MeSH: -
  • GARD: 2098
  • MedDRA: -

Summary

Epidemiology

It has been described in three female sibs (including a fetus).

Clinical description

Dysmorphic features were not characteristic.

Genetic counseling

The condition seems to be hereditary, and transmitted as an autosomal recessive trait.

Prognosis

Prognosis is poor and all infants died in infancy.

- Last update: July 2010

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.