Conditions / Syndrome

hydrolethalus syndrome 1

info · Syndrome

A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2.

Signs and symptoms

Micrognathia
Polyhydramnios
Midline defect of the nose
Microphthalmia
Severe hydrocephalus
Tracheal stenosis
Cleft in skull base
Preaxial hand polydactyly
Abnormal pinna morphology
Low-set ears

Also known as: HLS1