Disease #00151 (CHILD (Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects Syndrome), OMIM:308050)

Official abbreviation CHILD
Name Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects Syndrome
OMIM ID 308050
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene NSDHL
Associated tissues -
Disease features -
Remarks -


Individuals

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00000771 Min Moon Tang et al.(2020) F Malaysia Chinese - - - CHILD She had kyphoscoliosis with restricted chest expansion, fix flexion deformity of the left hand with leftAKA stump. Thick, erythematous, and verrucous scaly plaques along the Blaschko lines involving the left upper limb, left inguinal region and posterior thigh. Radiographic examination of the chest showed scoliosis with asymmetrical rib cage, and a relatively enlarged cardiac size, dysplastic left acetabulum and resorbed femoral head NSDHL NSDHL 1 1 Nur Aisyah Athirah
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