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Summary
CHILD SYNDROME
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
308050
OMIM = Online Medalian Inheritance of Men
139
Xp28
very rare (<60 cases)
X-linked dominant
mutation in the NSDHL gene can cause CHILD syndrome and CK syndrome
symptoms
alopecia
congenital heart defect
contractures, joints
hearing defect, deafness
hemidysplasia
hernia
hydronephrosis
ichthyosiform nevi
ichthyosis
limb abnormalities, limb deformities
mental retardation
onset, childhood
onset, infancy
pulmonary hypoplasia
punctate calcifications
shortening of long bones
skeletal changes, skeletal abnormalities
laboratory finding
8-Dehydrocholesterol +€mol/lplasma
8(9)-cholestenol +€mol/lplasma
Literature
Sidden CRet al.A case of chondrodysplasia punctata with features of osteogenesis imperfecta type IIJ Ultrasound Med206699-7032001
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Santoro L,et al.Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutatioNeurogenetics12133-392011
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Malou Eet al.X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biologyArch Pediatr82176-1802001
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Striz ITrebichavsky ICalprotectin - a pleiotropic molecule in acute and chronic inflammationPhysiol Res533245-2532004
Staropoli JF,et al.A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome systemAm J Hum Genet911202-2082012