hydrolethalus syndrome

Hydrolethalus syndrome is a rare lethal genetic syndrome characterized by multiple developmental defects of fetus which include

• midline malformations
  • cleft lip + / - palate
• CNS malformations
  • fetal hydrocephalus
  • agenesis of the corpus callosum
  • Dandy-Walker malformation
  • absent midline structures of the brain
• micrognathia / microgenia
• fetal limb anomalies
  • polydactyly (post-axial in the hands and pre-axial in the feet)
  • club feet

Epidemiology

The estimated incidence is at approximately 1 in 20000 births. There is often ancestral links to an area in eastern Finland where the syndrome was described, for the first time, in 1981. Outside of this sub group, the incidence is even much more rarer.

Pathology

Genetics

An autosomal recessive inheritance pattern is often suspected and it is thought to be caused by a missense mutation in a novel gene HYLS1.

Associations

• congenital cardiac anomalies

Siehe auch:

• Polydaktylie
• Mikrognathie
• Lippen-Kiefer-Gaumen-Spalte
• Klumpfuß
• Dandy-Walker-Syndrom
• microgenia
• Dysgenesie des Corpus callosum
• kongenitaler Hydrozephalus

und weiter:

• mandibuläre Retrognathie