Gamuts

Hydrolethalus syndrome

Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and, most commonly, stillbirth.HLS is associated with HYLS1 mutations. The gene encoding HYLS1 is responsible for proper cilial development within the human body. [Source: Wikipedia ]

May Cause
Anophthalmia
Bowed bones
Bowed tubular bones
Cleft lip/palate
Congenital hydrocephalus
Congenital macrocephaly
Encephalocele/meningocele
Enlarged foramen magnum
External ear malformation
Hydrocephalus
Incomplete ossification of cranial sutures
Large sella turcica
Micrognathia
Microphthalmia
Neuronal migration disorder
Polydactyly
May Cause
Anophthalmia
Bowed bones
Bowed tubular bones
Cleft lip/palate
Congenital hydrocephalus
Congenital macrocephaly
Encephalocele/meningocele
Enlarged foramen magnum
External ear malformation
Hydrocephalus
Incomplete ossification of cranial sutures
Large sella turcica
Micrognathia
Microphthalmia
Neuronal migration disorder
Polydactyly


Copyright © 2025, Charles E. Kahn, Jr., MD, MS
ALL RIGHTS RESERVED
About "Gamuts"

Quiz