CHILD SYNDROME

very rare ( X-linked dominant mutation in the NSDHL gene can cause CHILD syndrome and CK syndrome

CHILD-Syndrom; Kongenitale Hemidysplasie mit Erythroderma ichthyosiformis und Gliedmaßenanomalien

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Question 1

What is  CHILD SYNDROME?

Accepted Answer

very rare (<60 cases)
X-linked dominant
mutation in the NSDHL gene can cause CHILD syndrome and CK syndrome

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CHILD-Syndrom; Kongenitale Hemidysplasie mit Erythroderma ichthyosiformis und Gliedmaßenanomalien

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 308050

Question 4

Which enzymes are involved?

Accepted Answer

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Disease	CHILD SYNDROME
Synonym	CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
OMIM	308050 OMIM = Online Mendelian Inheritance of Men
Orphanet	139
Protein (UniProt)	Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Gene locus	Xp28
ICD	Q87.8
Summary	very rare (<60 cases) X-linked dominant mutation in the NSDHL gene can cause CHILD syndrome and CK syndrome
Laboratory findings	8(9)-cholestenol inc (plasma) 8-Dehydrocholesterol inc (plasma)
Symptoms	hemidysplasia alopecia congenital heart defect hearing defect, deafness hydronephrosis limb abnormalities, limb deformities skeletal changes, skeletal abnormalities skin defects contractures, joints erythema hernia hyperkeratosis ichthyosis mental retardation onset, childhood onset, infancy pulmonary hypoplasia punctate calcifications shortening of long bones unilateral changes or findings