MCID: CHL071
MIFTS: 59

Child Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Child Syndrome

MalaCards integrated aliases for Child Syndrome:

Name: Child Syndrome 54 50 24 25 56 29 13 52
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 24 25 71 69
Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs 25
Congenital Hemidysplasia with Ichthyosiform Nevus and Limbs Defects 56
Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects 50
Ichthyosis, Child Syndrome 50
Child Nevus 56
Child 71

Characteristics:

Orphanet epidemiological data:

56
child syndrome
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Miscellaneous:
genetic heterogeneity
child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects
right side affected greater than left side
left side involvement associated with serious cardiac defect

Inheritance:
x-linked dominant


HPO:

32
child syndrome:
Mortality/Aging stillbirth
Inheritance heterogeneous x-linked dominant inheritance


Classifications:



Summaries for Child Syndrome

NIH Rare Diseases : 50 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 greenberg skeletal dysplasia and smith-lemli-opitz syndrome, and has symptoms including short stature, scoliosis and umbilical hernia. An important gene associated with Child Syndrome is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Cytoskeleton remodeling Neurofilaments. The drugs Methylprednisolone and Mycophenolate mofetil have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are growth/size/body region and mortality/aging

UniProtKB/Swiss-Prot : 71 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.

Genetics Home Reference : 25 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 : 54
CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males (Happle et al., 1980). CK syndrome (300275), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype. (308050)

Related Diseases for Child Syndrome

Graphical network of the top 20 diseases related to Child Syndrome:



Diseases related to Child Syndrome

Symptoms & Phenotypes for Child Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Limbs:
joint contractures
unilateral hypomelia (digital hypoplasia to complete limb absence)
elbow webbing
knee webbing
ipsilateral epiphyseal stippling

Abdomen- External Features:
umbilical hernia

Genitourinary- Kidneys:
hydronephrosis
ipsilateral renal agenesis

Skin Nails & Hair- Skin:
hyperkeratosis
unilateral erythema and scaling (present at birth or soon after birth, face is spared)
sharp midline demarcation

Neurologic- Central Nervous System:
mild mental retardation
ipsilateral brain hypoplasia
ipsilateral cranial nerve hypoplasia

Growth- Other:
mild prenatal growth deficiency

Chest- Ribs Sternum Clavicles And Scapulae:
unilateral clavicular, scapular, rib hypoplasia

Skeletal- Skull:
ipsilateral mandibular hypoplasia

Skin Nails & Hair- Nails:
onychorrhexis
destruction of nails

Endocrine Features:
ipsilateral thyroid gland hypoplasia
ipsilateral adrenal gland hypoplasia

Skeletal- Spine:
scoliosis

Head And Neck- Ears:
hearing loss

Head And Neck- Mouth:
cleft lip

Cardiovascular- Heart:
septal defects
single ventricle
single coronary ostium

Laboratory- Abnormalities:
elevated 8(9)-cholestenol
elevated 8-dehydrocholesterol

Respiratory- Lung:
ipsilateral lung hypoplasia

Genitourinary- Internal Genitalia Female:
ipsilateral ovarian hypoplasia
ipsilateral fallopian tube hypoplasia

Skeletal- Pelvis:
unilateral pelvic hypoplasia

Skin Nails & Hair- Hair:
unilateral alopecia


Clinical features from OMIM:

308050

Human phenotypes related to Child Syndrome:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 short stature 32 occasional (7.5%) HP:0004322
2 scoliosis 32 occasional (7.5%) HP:0002650
3 umbilical hernia 32 HP:0001537
4 micrognathia 32 occasional (7.5%) HP:0000347
5 alopecia 32 occasional (7.5%) HP:0001596
6 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089
7 adrenal hypoplasia 32 occasional (7.5%) HP:0000835
8 hydronephrosis 32 HP:0000126
9 short ribs 32 occasional (7.5%) HP:0000773
10 hypoplastic scapulae 32 occasional (7.5%) HP:0000882
11 intellectual disability, mild 32 HP:0001256
12 hyperkeratosis 32 frequent (33%) HP:0000962
13 congenital hip dislocation 32 occasional (7.5%) HP:0001374
14 parakeratosis 32 frequent (33%) HP:0001036
15 short clavicles 32 occasional (7.5%) HP:0000894
16 hearing impairment 32 occasional (7.5%) HP:0000365
17 vertebral hypoplasia 32 occasional (7.5%) HP:0008417
18 single ventricle 32 HP:0001750
19 epiphyseal stippling 32 hallmark (90%) HP:0010655
20 congenital ichthyosiform erythroderma 32 obligate (100%) HP:0007431
21 elevated 8(9)-cholestenol 32 occasional (7.5%) HP:0003465
22 elevated 8-dehydrocholesterol 32 occasional (7.5%) HP:0003462
23 renal hypoplasia/aplasia 32 occasional (7.5%) HP:0008678
24 hypoplastic pelvis 32 occasional (7.5%) HP:0008839
25 flexion contracture 32 occasional (7.5%) HP:0001371
26 abnormality of the nail 32 frequent (33%) HP:0001597
27 abnormality of the cardiac septa 32 HP:0001671
28 cleft upper lip 32 HP:0000204
29 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
30 thyroid hypoplasia 32 occasional (7.5%) HP:0005990
31 aplasia/hypoplasia of the extremities 32 hallmark (90%) HP:0009815
32 aplasia/hypoplasia involving the central nervous system 32 occasional (7.5%) HP:0002977
33 mild intrauterine growth retardation 32 HP:0008883

MGI Mouse Phenotypes related to Child Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 EBP GNPAT KRT14 KRT16 NSDHL TOR1A
2 mortality/aging MP:0010768 9.63 EBP GNPAT KRT14 KRT16 NSDHL TOR1A
3 integument MP:0010771 9.56 EBP KRT14 KRT16 NSDHL
4 pigmentation MP:0001186 9.13 GNPAT KRT14 NSDHL
5 vision/eye MP:0005391 8.92 NSDHL TOR1A GNPAT KRT14

Drugs & Therapeutics for Child Syndrome

Drugs for Child Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1317)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
2
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
3
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
4
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
5
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
6
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
7
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
8
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2 59467-70-8 4192
9
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3 2078-54-8 4943
10
Remifentanil Approved Phase 4,Phase 3 132875-61-7 60815
11
Azacitidine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 320-67-2 9444
12
Decitabine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 2353-33-5 451668
13
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
14
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
15
Azathioprine Approved Phase 4,Phase 2,Phase 3,Phase 1 446-86-6 2265
16
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
17
Valsartan Approved, Investigational Phase 4,Phase 2,Phase 1 137862-53-4 60846
18 Beractant Approved Phase 4,Phase 2,Phase 3,Phase 1 108778-82-1
19
Budesonide Approved Phase 4,Phase 3,Phase 1 51333-22-3 63006 5281004
20 Poractant alfa Approved Phase 4,Phase 2,Phase 3 129069-19-8
21
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
22
Misoprostol Approved Phase 4 59122-46-2 5282381
23
Spironolactone Approved Phase 4,Phase 2,Phase 1 1952-01-7, 52-01-7 5833
24
Ramipril Approved Phase 4,Phase 3 87333-19-5 5362129
25
Moxonidine Approved Phase 4 75438-57-2 4810
26
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
27
Fosaprepitant Approved Phase 4 172673-20-0 219090
28
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
29
Pentoxifylline Approved, Investigational Phase 4,Phase 3 6493-05-6 4740
30
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
31
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
32
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
33
Montelukast Approved Phase 4,Phase 3,Phase 2 158966-92-8 5281040
34
Drospirenone Approved Phase 4,Phase 3 67392-87-4 68873
35
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
36
Lopinavir Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 192725-17-0 92727
37
Ritonavir Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 155213-67-5 392622
38
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
39
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
40
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 134678-17-4 60825
41
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 129618-40-2 4463
42
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 30516-87-1 35370
43
Ursodeoxycholic acid Approved, Investigational Phase 4,Phase 2 128-13-2 31401
44
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
45
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
46
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
47
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
48
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99-66-1 3121
49
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
50
Fludarabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751

Interventional clinical trials:

(show top 50) (show all 5480)

id Name Status NCT ID Phase Drugs
1 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
3 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
4 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
5 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4 Aripiprazole;Quetiapine
6 Propofol Versus Midazolam as Premedication for Preterm Neonates With Respiratory Distress Syndrome (RDS) Unknown status NCT00797160 Phase 4 propofol
7 Efficacy Evaluation of Surfactant Administration Via Laryngeal Mask Airway Unknown status NCT01173237 Phase 4
8 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
9 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
10 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4 methylphenidate;Atomoxetine
11 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
12 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
13 CHUSPAN SCS BP Treatment of Churg–Strauss Syndrome Without Poor-Prognosis Factors Unknown status NCT00399399 Phase 4 azathioprine;cyclophosphamide
14 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
15 Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
16 Rajavithi Health Promotion Project (Population Base Cohort) Unknown status NCT00368095 Phase 4
17 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4 Valsartan
18 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
19 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
20 Surfactant Administration During Spontaneous Breathing Unknown status NCT01329432 Phase 4
21 Brain Oxygenation and Function of Preterm Newborns During Administration of Two Different Surfactant Preparations Unknown status NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
22 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
23 Metformin for Weight Control in Adolescents Taking Atypical Antipsychotics Unknown status NCT00845936 Phase 4 Metformin
24 Sublingual Misoprostol for Induction of Labor Unknown status NCT01406392 Phase 4 Misoprostol 25mcg;Sublingual Misoprostol
25 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
26 Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure Unknown status NCT00527059 Phase 4 Levosimendan in addition to standard therapy;spironolactone, beta-blockers,ecc
27 Statin and Angiotensin-converting Enzyme Inhibitor on Symptoms in Patients With SCAD Unknown status NCT02008786 Phase 4 ramipril;rosuvastatin;placebo
28 Neurally Adjusted Ventilatory Assist (NAVA) vs. Pressure Support in Pediatric Acute Respiratory Failure Unknown status NCT01873521 Phase 4
29 Study of the Effect of Moxonidine and Diet on Sympathetic Functions in Young Adults With Obesity Unknown status NCT01180231 Phase 4 Moxonidine (Physiotens)
30 Self-control Trial to Evaluate the Role of Aprepitant in the Prophylaxis of Post-lumbar-punture-headache (PLPH) Unknown status NCT02347878 Phase 4 Aprepitant
31 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
32 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
33 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
34 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4 herbal drug;placebo
35 Equivalence of Boosted Atazanavir Based Regimens and Currently Effective HAART Regimens Unknown status NCT00940771 Phase 4 Boosted Atazanavir
36 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4
37 Diagnostic Immunization With Rabies Vaccine in Patients With PID Unknown status NCT02490956 Phase 4
38 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4 methylorednisolone
39 Role of 'Pentoxifylline and or IgM Enriched Intravenous Immunoglobulin in the Treatment of Neonatal Sepsis' Unknown status NCT01006499 Phase 4 Pentoxifylline, pentaglobin
40 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
41 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
42 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
43 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
44 Efficacy of Oral Leukotriene in Long Term Therapy of Mild and Moderate Obstructive Sleep Apnea Syndrome in Children Completed NCT00912171 Phase 4 budesonide (Aircort 50 nasal spray);montelukast (Singulair)
45 Levothyroxine for Children With Euthyroid Sick Syndrome Completed NCT01631305 Phase 4 Levothyroxine
46 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
47 Nasal Budesonide in Children With Rhinitis and/or Mild Obstructive Sleep Apnea Syndrome Completed NCT00560586 Phase 4 Budesonide;placebo
48 Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome Completed NCT01312402 Phase 4 topical brinzolamide 1% in 5mL ophthalmic medication;Placebo in 5 mL dispenser
49 Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome Completed NCT01895894 Phase 4 Mycophenolate mofetil
50 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol

Search NIH Clinical Center for Child Syndrome

Genetic Tests for Child Syndrome

Genetic tests related to Child Syndrome:

id Genetic test Affiliating Genes
1 Child Syndrome 29 24 NSDHL

Anatomical Context for Child Syndrome

MalaCards organs/tissues related to Child Syndrome:

39
Bone, Bone Marrow, Lung, Heart, Myeloid, Testes, T Cells

Publications for Child Syndrome

Articles related to Child Syndrome:

(show all 45)
id Title Authors Year
1
Only child syndrome in snakes: Eggs incubated alone produce asocial individuals. ( 27761007 )
2016
2
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation. ( 26459993 )
2015
3
Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy. ( 25587692 )
2015
4
'The bones tell a story the child is too young or too frightened to tell': The Battered Child Syndrome in Post-war Britain and America. ( 26516299 )
2015
5
Battered Child Syndrome; a Case Study. ( 26495388 )
2015
6
CHILD syndrome with minimal limb abnormalities. ( 26611379 )
2015
7
Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome. ( 26014843 )
2015
8
CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment-A Case Report. ( 25845514 )
2015
9
Significance of platelet function diagnostics for clarification of suspected battered child syndrome. ( 25382772 )
2014
10
CHILD syndrome without hemidysplasia. ( 25533639 )
2014
11
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
12
CHILD syndrome. ( 25201868 )
2014
13
CHILD Syndrome: Effective Treatment of Ichthyosiform Naevus with Oral and Topical Ketoconazole. ( 24696032 )
2014
14
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis. ( 25093865 )
2014
15
Small intestinal mucosal xanthoma in a patient with CHILD syndrome. ( 23969275 )
2013
16
Vulnerable child syndrome, parental perception of child vulnerability, and emergency department usage. ( 22068058 )
2011
17
'Munchausen syndrome by proxy' presenting as battered child syndrome: a report of two cases. ( 20618475 )
2010
18
CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. ( 20804683 )
2010
19
Optic nerve findings in CHILD syndrome. ( 20886807 )
2010
20
CHILD syndrome vs. unilateral psoriasis. ( 20618511 )
2010
21
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. ( 19906044 )
2010
22
Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome. ( 20796237 )
2010
23
Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. ( 20605772 )
2010
24
Parenting style and the vulnerable child syndrome. ( 19930304 )
2009
25
Mild phenotypic expression of CHILD syndrome in two generations. ( 19614651 )
2009
26
The vulnerable child syndrome. ( 19411339 )
2009
27
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing. ( 18764845 )
2008
28
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. ( 18825599 )
2008
29
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. ( 16549711 )
2006
30
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. ( 16088165 )
2005
31
Stiff child syndrome with mutation of DYT1 gene. ( 16275837 )
2005
32
CHILD syndrome avant la lettre. ( 14726863 )
2004
33
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. ( 12966526 )
2003
34
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. ( 11907515 )
2002
35
Factor XIII deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value. ( 12447966 )
2002
36
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
37
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. ( 10710235 )
2000
38
Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome? ( 9146558 )
1997
39
CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin. ( 1372340 )
1992
40
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. ( 1519936 )
1992
41
The CHILD-syndrome--congenital hemidysplasia with ichthyosiform erythroderma and limb defects. A case report. ( 6203309 )
1984
42
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. ( 7408908 )
1980
43
Unusual bone involvement in congenital syphilis mimicking the battered child syndrome. ( 733400 )
1978
44
Chylous ascites. Manifestation of the battered child syndrome. ( 1190167 )
1975
45
Congenital syphilis mimicking the battered child syndrome. How does one tell them apart? ( 5028577 )
1972

Variations for Child Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 NSDHL p.Ala105Val VAR_010207 rs104894909
2 NSDHL p.Gly205Ser VAR_010208 rs104894901
3 NSDHL p.Ala182Pro VAR_065289 rs104894904

ClinVar genetic disease variations for Child Syndrome:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 NSDHL NM_001129765.1(NSDHL): c.314C> T (p.Ala105Val) single nucleotide variant Pathogenic rs104894909 GRCh37 Chromosome X, 152027360: 152027360
2 NSDHL NM_001129765.1(NSDHL): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs104894901 GRCh37 Chromosome X, 152034432: 152034432
3 NSDHL NM_001129765.1(NSDHL): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs104894902 GRCh37 Chromosome X, 152034447: 152034447
4 NSDHL NM_001129765.1(NSDHL): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs104894903 GRCh37 Chromosome X, 152018962: 152018962
5 NSDHL NM_001129765.1(NSDHL): c.544G> C (p.Ala182Pro) single nucleotide variant Pathogenic rs104894904 GRCh37 Chromosome X, 152034363: 152034363
6 NSDHL NM_001129765.1(NSDHL): c.451G> T (p.Glu151Ter) single nucleotide variant Pathogenic rs104894905 GRCh37 Chromosome X, 152031176: 152031176
7 NSDHL NM_001129765.1(NSDHL): c.1046A> G (p.Tyr349Cys) single nucleotide variant Pathogenic rs137853863 GRCh37 Chromosome X, 152037584: 152037584
8 NSDHL NM_001129765.1(NSDHL): c.370G> A (p.Gly124Ser) single nucleotide variant Pathogenic rs137853862 GRCh37 Chromosome X, 152027416: 152027416
9 NSDHL NM_015922.2(NSDHL): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic rs141571609 GRCh37 Chromosome X, 152036185: 152036185
10 NSDHL NM_001129765.1(NSDHL): c.904delT (p.Tyr302Thrfs) deletion Pathogenic rs587784225 GRCh37 Chromosome X, 152037442: 152037442
11 NSDHL NM_015922.2(NSDHL): c.906C> A (p.Tyr302Ter) single nucleotide variant Pathogenic rs587784226 GRCh37 Chromosome X, 152037444: 152037444
12 NSDHL NM_001129765.1(NSDHL): c.1114delG (p.Val372Serfs) deletion Likely pathogenic rs587784222 GRCh37 Chromosome X, 152037652: 152037652
13 NSDHL NM_001129765.1(NSDHL): c.1038_1041dupCATG (p.Gly348Hisfs) duplication Pathogenic rs797045835 GRCh38 Chromosome X, 152869032: 152869035

Expression for Child Syndrome

Search GEO for disease gene expression data for Child Syndrome.

Pathways for Child Syndrome

GO Terms for Child Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.46 EBP NSDHL
2 cornification GO:0070268 9.43 KRT14 KRT16
3 epidermis development GO:0008544 9.4 KRT14 KRT16
4 cholesterol metabolic process GO:0008203 9.37 EBP NSDHL
5 steroid biosynthetic process GO:0006694 9.32 EBP NSDHL
6 cholesterol biosynthetic process GO:0006695 9.26 EBP NSDHL
7 sterol biosynthetic process GO:0016126 9.16 EBP NSDHL
8 intermediate filament cytoskeleton organization GO:0045104 8.96 KRT16 TOR1A
9 hair cycle GO:0042633 8.62 KRT14 KRT16

Molecular functions related to Child Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 KRT14 KRT16

Sources for Child Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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