CHILD syndrome

CHILD

Acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Synonym(s): CHILD syndrome

CHILD syndrome

Congenital Hemidysplasia-Ichthyosiform erythroderma-Limb Deformity syndrome. An X-linked MIM 308050 congenital condition that is fatal in males; male:female ratio, 19:1.

Clinical findings
Unilateral ichthyosis and limb malformation, accompanied by ipsilateral hypoplasia of paired organs (e.g., lung, thyroid, psoas muscle), CNS and cranial nerves.
Molecular pathology
CHILD is associated with a mutation of NSDHL on chromosome Xq28, which encodes a protein that localises to the endoplasmic reticulum and is involved in cholesterol biosynthesis.

CHILD syndrome

An X-linked congenital lethal complex that is fatal in ♂–♂:♀ ratio, 19:1 Clinical Unilateral ichthyosis, limb malformation, accompanied by ipsilateral hypoplasia of paired organs–eg, lung, thyroid, psoas muscle, CNS, and cranial nerves

单词	child syndrome
释义	DictionarySeechild CHILD syndrome CHILD Acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Synonym(s): CHILD syndrome CHILD syndrome Congenital Hemidysplasia-Ichthyosiform erythroderma-Limb Deformity syndrome. An X-linked MIM 308050 congenital condition that is fatal in males; male:female ratio, 19:1. Clinical findings Unilateral ichthyosis and limb malformation, accompanied by ipsilateral hypoplasia of paired organs (e.g., lung, thyroid, psoas muscle), CNS and cranial nerves. Molecular pathology CHILD is associated with a mutation of NSDHL on chromosome Xq28, which encodes a protein that localises to the endoplasmic reticulum and is involved in cholesterol biosynthesis. CHILD syndrome An X-linked congenital lethal complex that is fatal in ♂–♂:♀ ratio, 19:1 Clinical Unilateral ichthyosis, limb malformation, accompanied by ipsilateral hypoplasia of paired organs–eg, lung, thyroid, psoas muscle, CNS, and cranial nerves FinancialSeeChild
随便看	integrated pest management program integrated pest management research network integrated pest management resource center integrated pest management strategy area integrated petroleum environmental consortium integrated phase and amplitude controller integrated philippine association of optometrists, inc. integrated phone solutions integrated photonic milimeter-wave functions for broadband connectivity integrated photonics, inc. integrated photonics module integrated photonic subsystems integrated phrenic nerve activity integrated physical science integrated physics and chemistry integrated picture archiving and communication system integrated pitch tracking algorithm integrated plan for the wastewater program integrated planning integrated planning, accountability, and budgeting system integrated planning accounting and reporting system integrated planning and budget system integrated planning and execution integrated planning and other legislation amendment act integrated planning and reporting system