MCID: CHL071
MIFTS: 48

Child Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases, Cancer diseases categories

Summaries for Child Syndrome

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NIH Rare Diseases:41 Child syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. the development of organs such as the brain, heart, lungs, and kidneys may also be affected. several cases in which milder signs and symptoms have been reported in the medical literature. the condition is caused by mutations in the nsdhl gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. child syndrome is inherited in an x-linked dominant fashion and is almost exclusively found in females. last updated: 1/28/2010

MalaCards based summary: Child Syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is related to smith-lemli-opitz syndrome and congenital syphilis, and has symptoms including congenital ichthyosiform erythroderma, aplasia/hypoplasia of the extremities and epiphyseal stippling. An important gene associated with Child Syndrome is NSDHL (NAD(P) dependent steroid dehydrogenase-like), and among its related pathways are superpathway of cholesterol biosynthesis and Metabolism. The compounds 3beta-hydroxysteroid and emopamil have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, and related mouse phenotypes are pigmentation and mortality/aging.

Genetics Home Reference:21 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.

OMIM:45 CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with... (308050) more...

Aliases & Classifications for Child Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Child Syndrome, Aliases & Descriptions:

Name: Child Syndrome 45 10 41 21 43 47
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 45 21 60
Congenital Hemidysplasia with Ichthyosiform Nevus and Limbs Defects 41 47
Child Nevus 41 47
 
Child 20 22
Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs 21
Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects 41
Ichthyosis, Child Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
child syndrome:
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 308050
Orphanet47 139
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0265267

Related Diseases for Child Syndrome

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Graphical network of diseases related to Child Syndrome:



Diseases related to child syndrome

Symptoms for Child Syndrome

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Symptoms by clinical synopsis from OMIM:

308050

Clinical features from OMIM:

308050

Symptoms:

 47 (show all 44)
  • absent pectoral muscles
  • anomalies of the ribs
  • cutaneous/amniotic bands/webbing of joints
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • upper limb transverse anomaly (excluding hand)
  • ichthyosis/ichthyosiform dermatitis
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • thin skin
  • hypoplastic left heart/ventricle
  • atrial septal defect/interauricular communication
  • thyroid anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • anomalies of bones/skeletal anomalies
  • bone/osseous hypoplasia
  • x-linked dominant inheritance
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • kyphosis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • nails anomalies
  • dysplastic/thick/grooved fingernails
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • ventricular septal defect/interventricular communication
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • agenesis/hypoplasia/aplasia of kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • uterine/uterus/fallopian tubes anomalies
  • abnormal/polycystic ovaries
  • adrenal glands anomalies
  • meningocele
  • myelomeningocele
  • cranial nerve anomalies
  • sensitive trouble/deficit
  • epiphyseal anomaly
  • intrauterine growth retardation

HPO human phenotypes related to Child Syndrome:

(show all 68)
id Description Frequency HPO Source Accession
1 congenital ichthyosiform erythroderma obligate (100%) HP:0007431
2 aplasia/hypoplasia of the extremities hallmark (90%) HP:0009815
3 epiphyseal stippling hallmark (90%) HP:0010655
4 abnormality of the ribs hallmark (90%) HP:0000772
5 abnormality of the thyroid gland hallmark (90%) HP:0000820
6 sprengel anomaly hallmark (90%) HP:0000912
7 thin skin hallmark (90%) HP:0000963
8 skin rash hallmark (90%) HP:0000988
9 flexion contracture hallmark (90%) HP:0001371
10 defect in the atrial septum hallmark (90%) HP:0001631
11 abnormality of bone mineral density hallmark (90%) HP:0004348
12 hypoplastic left heart hallmark (90%) HP:0004383
13 ichthyosis hallmark (90%) HP:0008064
14 aplasia of the pectoralis major muscle hallmark (90%) HP:0009751
15 amniotic constriction ring hallmark (90%) HP:0009775
16 upper limb phocomelia hallmark (90%) HP:0009813
17 cognitive impairment hallmark (90%) HP:0100543
18 asymmetric growth hallmark (90%) HP:0100555
19 hyperkeratosis common (75%) HP:0000962
20 parakeratosis common (75%) HP:0001036
21 abnormality of the nail common (75%) HP:0001597
22 cerebral cortical atrophy typical (50%) HP:0002120
23 short ribs occasional (7.5%) HP:0000773
24 hypoplastic scapulae occasional (7.5%) HP:0000882
25 short clavicles occasional (7.5%) HP:0000894
26 flexion contracture occasional (7.5%) HP:0001371
27 congenital hip dislocation occasional (7.5%) HP:0001374
28 alopecia occasional (7.5%) HP:0001596
29 pulmonary hypoplasia occasional (7.5%) HP:0002089
30 malformation of the heart and great vessels occasional (7.5%) HP:0002564
31 scoliosis occasional (7.5%) HP:0002650
32 elevated 8-dehydrocholesterol occasional (7.5%) HP:0003462
33 elevated 8(9)-cholestenol occasional (7.5%) HP:0003465
34 short stature occasional (7.5%) HP:0004322
35 vertebral hypoplasia occasional (7.5%) HP:0008417
36 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
37 hypoplastic pelvis occasional (7.5%) HP:0008839
38 polycystic ovaries occasional (7.5%) HP:0000147
39 cleft palate occasional (7.5%) HP:0000175
40 hearing impairment occasional (7.5%) HP:0000365
41 abnormality of the adrenal glands occasional (7.5%) HP:0000834
42 dry skin occasional (7.5%) HP:0000958
43 hyperkeratosis occasional (7.5%) HP:0000962
44 abnormality of the fingernails occasional (7.5%) HP:0001231
45 abnormality of the cranial nerves occasional (7.5%) HP:0001291
46 intrauterine growth retardation occasional (7.5%) HP:0001511
47 ventricular septal defect occasional (7.5%) HP:0001629
48 abnormality of the heart valves occasional (7.5%) HP:0001654
49 myelomeningocele occasional (7.5%) HP:0002475
50 kyphosis occasional (7.5%) HP:0002808
51 abnormality of the epiphyses occasional (7.5%) HP:0005930
52 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
53 arteriovenous malformation occasional (7.5%) HP:0100026
54 micrognathia rare (5%) HP:0000347
55 hearing impairment rare (5%) HP:0000365
56 adrenal hypoplasia rare (5%) HP:0000835
57 aplasia/hypoplasia involving the central nervous system rare (5%) HP:0002977
58 thyroid hypoplasia rare (5%) HP:0005990
59 hydronephrosis HP:0000126
60 cleft upper lip HP:0000204
61 intellectual disability, mild HP:0001256
62 x-linked dominant inheritance HP:0001423
63 heterogeneous HP:0001425
64 umbilical hernia HP:0001537
65 abnormality of the cardiac septa HP:0001671
66 single ventricle HP:0001750
67 hypoplastic pelvis HP:0008839
68 mild intrauterine growth retardation HP:0008883

Drugs & Therapeutics for Child Syndrome

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Drug clinical trials:

Search ClinicalTrials for Child Syndrome

Search NIH Clinical Center for Child Syndrome

Genetic Tests for Child Syndrome

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Genetic tests related to Child Syndrome:

id Genetic test Affiliating Genes
1 Child Syndrome20 22

Anatomical Context for Child Syndrome

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MalaCards organs/tissues related to Child Syndrome:

31
Skin, Heart, Lung, Kidney, Brain, Bone, Thyroid, Adrenal gland, Ovary, Uterus, Testes, Small intestine

Animal Models for Child Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Child Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4NSDHL, GNPAT
2MP:00107687.7NSDHL, TOR1A, GNPAT, EBP

Publications for Child Syndrome

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Articles related to Child Syndrome:

(show all 38)
idTitleAuthorsYear
1
Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy. (25587692)
2015
2
CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment-A Case Report. (25845514)
2015
3
Significance of platelet function diagnostics for clarification of suspected battered child syndrome. (25382772)
2014
4
CHILD syndrome. (25201868)
2014
5
CHILD syndrome without hemidysplasia. (25533639)
2014
6
CHILD Syndrome: Effective Treatment of Ichthyosiform Naevus with Oral and Topical Ketoconazole. (24696032)
2014
7
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome. (24060582)
2014
8
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis. (25093865)
2014
9
Small intestinal mucosal xanthoma in a patient with CHILD syndrome. (23969275)
2013
10
Vulnerable child syndrome, parental perception of child vulnerability, and emergency department usage. (22068058)
2011
11
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. (19906044)
2010
12
'Munchausen syndrome by proxy' presenting as battered child syndrome: a report of two cases. (20618475)
2010
13
CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. (20804683)
2010
14
Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. (20605772)
2010
15
Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome. (20796237)
2010
16
CHILD syndrome vs. unilateral psoriasis. (20618511)
2010
17
Optic nerve findings in CHILD syndrome. (20886807)
2010
18
Mild phenotypic expression of CHILD syndrome in two generations. (19614651)
2009
19
The vulnerable child syndrome. (19411339)
2009
20
Parenting style and the vulnerable child syndrome. (19930304)
2009
21
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing. (18764845)
2008
22
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. (18825599)
2008
23
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. (16549711)
2006
24
Stiff child syndrome with mutation of DYT1 gene. (16275837)
2005
25
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. (16088165)
2005
26
CHILD syndrome avant la lettre. (14726863)
2004
27
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (12966526)
2003
28
Factor XIII deficiency mistaken for battered child syndrome: case of &quot;correct&quot; test ordering negated by a commonly accepted qualitative test with limited negative predictive value. (12447966)
2002
29
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (11907515)
2002
30
The Conradi-HA1nermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome. (10980461)
2000
31
Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome? (9146558)
1997
32
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. (1519936)
1992
33
CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin. (1372340)
1992
34
The CHILD-syndrome--congenital hemidysplasia with ichthyosiform erythroderma and limb defects. A case report. (6203309)
1984
35
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. (7408908)
1980
36
Unusual bone involvement in congenital syphilis mimicking the battered child syndrome. (733400)
1978
37
Chylous ascites. Manifestation of the battered child syndrome. (1190167)
1975
38
Congenital syphilis mimicking the battered child syndrome. How does one tell them apart? (5028577)
1972

Variations for Child Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Child Syndrome:

62
id Symbol AA change Variation ID SNP ID
1NSDHLp.Ala105ValVAR_010207
2NSDHLp.Gly205SerVAR_010208
3NSDHLp.Ala182ProVAR_065289

Clinvar genetic disease variations for Child Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NSDHLNM_001129765.1(NSDHL): c.314C> T (p.Ala105Val)single nucleotide variantPathogenicrs104894909GRCh37Chr X, 152027360: 152027360
2NSDHLNM_001129765.1(NSDHL): c.613G> A (p.Gly205Ser)single nucleotide variantPathogenicrs104894901GRCh37Chr X, 152034432: 152034432
3NSDHLNM_001129765.1(NSDHL): c.628C> T (p.Gln210Ter)single nucleotide variantPathogenicrs104894902GRCh37Chr X, 152034447: 152034447
4NSDHLNM_001129765.1(NSDHL): c.262C> T (p.Arg88Ter)single nucleotide variantPathogenicrs104894903GRCh37Chr X, 152018962: 152018962
5NSDHLNM_001129765.1(NSDHL): c.544G> C (p.Ala182Pro)single nucleotide variantPathogenicrs104894904GRCh37Chr X, 152034363: 152034363
6NSDHLNM_001129765.1(NSDHL): c.451G> T (p.Glu151Ter)single nucleotide variantPathogenicrs104894905GRCh37Chr X, 152031176: 152031176
7NSDHLNM_001129765.1(NSDHL): c.1046A> G (p.Tyr349Cys)single nucleotide variantPathogenicrs137853863GRCh37Chr X, 152037584: 152037584
8NSDHLNM_001129765.1(NSDHL): c.370G> A (p.Gly124Ser)single nucleotide variantPathogenicrs137853862GRCh37Chr X, 152027416: 152027416

Expression for genes affiliated with Child Syndrome

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Search GEO for disease gene expression data for Child Syndrome.

Pathways for genes affiliated with Child Syndrome

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Pathways related to Child Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cholesterol biosynthesis36
lanosterol biosynthesis36
zymosterol biosynthesis36
mevalonate pathway I36
epoxysqualene biosynthesis36
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)36
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)36
trans, trans-farnesyl diphosphate biosynthesis36
cholesterol biosynthesis I36
cholesterol biosynthesis III (via desmosterol)36
geranylgeranyldiphosphate biosynthesis36
9.3NSDHL, EBP
2
Show member pathways
8.8NSDHL, GNPAT, EBP

Compounds for genes affiliated with Child Syndrome

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Sources:
43Novoseek, 24HMDB
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Compounds related to Child Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
13beta-hydroxysteroid439.3NSDHL, EBP
2emopamil439.2NSDHL, EBP
3lathosterol43 2410.0NSDHL, EBP

GO Terms for genes affiliated with Child Syndrome

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Cellular components related to Child Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:00432319.1NSDHL, TOR1A
2endoplasmic reticulumGO:00057838.2NSDHL, TOR1A, EBP

Biological processes related to Child Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol biosynthetic processGO:00066959.0NSDHL, EBP
2small molecule metabolic processGO:00442818.8NSDHL, GNPAT, EBP

Products for genes affiliated with Child Syndrome

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  • Proteins
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  • Proteins
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Sources for Child Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet