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GENATLAS PHENOTYPE
last update : 06-01-2010
Symbol HYLS1
Location 11q23-q25
Name hydrolethalus syndrome
Corresponding gene HYLS1
Main clinical features
  • polydactyly and central nervous system malformation, ventricles open to the subarachnoid space and external hydrocephalus, foramen magnus keyhole shaped, polydactyly is postaxial in the hands and preaxial in the feet, clubfeet, mandible always small and nose poorly formed, eyes hypoplastic, large AV communis defect of the heart, lethal
  • brain pathology, clearly belonging to the midline patterning defects, and seems to be unique for the hydrolethalus syndrome and combines features of disturbed neurulation, prosencephalization, and migration (Paetau 2008)
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    osteo-articular
    eye
    cardiovascular
    Type MCA/MR
    Gene product
    Name hydrolethalus syndrome 1 protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    Remark(s)