ORPHA:139
CHILD syndrome
Also called CHILD nevus, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- X-linked dominant
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:139 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Epiphyseal stippling
- Hyperkeratosis
- Parakeratosis
- Congenital ichthyosiform erythroderma
- Congenital onychodystrophy
- Short metacarpal