DISEASE: Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
Entry
H00496 Disease
Name
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
Description
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06034 Cholesterol biosynthesis
H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus. Distinctive features include down slanting palpebral fissures, a high nasal bridge, a high arched palate, micrognathia, and short stature. Patients also have behavior problems, including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. CK syndrome is caused by mutations in NSDHL, a gene that encodes an enzyme in the cholesterol biosynthesis pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01917 CK syndrome
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06034 Cholesterol biosynthesis
H01917 CK syndrome
du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF
Title
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.