CHANDS
MCID: CHN019
MIFTS: 32

Chand Syndrome (CHANDS)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chand Syndrome

MalaCards integrated aliases for Chand Syndrome:

Name: Chand Syndrome 56 58 73
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome 73 29 6
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 56 58 71
Chands 56 58 73
Baughman Syndrome 58
Nails, Malformed 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia


HPO:

31
chand syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Chand Syndrome

OMIM : 56 CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017). (214350)

MalaCards based summary : Chand Syndrome, also known as curly hair, ankyloblepharon, nail dysplasia syndrome, is related to ankyloblepharon-ectodermal defects-cleft lip/palate and rapp-hodgkin syndrome. An important gene associated with Chand Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4). The drugs Wormwood and Mugwort have been mentioned in the context of this disorder. Affiliated tissues include skin and tongue, and related phenotypes are nail dysplasia and ankyloblepharon

UniProtKB/Swiss-Prot : 73 CHAND syndrome: An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula.

Related Diseases for Chand Syndrome

Diseases related to Chand Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ankyloblepharon-ectodermal defects-cleft lip/palate 10.2
2 rapp-hodgkin syndrome 10.2
3 bartsocas-papas syndrome 10.2
4 ectodermal dysplasia 10.2
5 cleft lip 10.2
6 cleft lip/palate 10.2
7 ataxia and polyneuropathy, adult-onset 10.1
8 popliteal pterygium syndrome 10.1
9 choanal atresia, posterior 10.1
10 nail disorder, nonsyndromic congenital, 9 10.1
11 autosomal recessive disease 10.1
12 anhidrosis 10.1

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



Diseases related to Chand Syndrome

Symptoms & Phenotypes for Chand Syndrome

Human phenotypes related to Chand Syndrome:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002164
2 ankyloblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0009755
3 curly hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002212
4 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
8 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
9 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
10 atelectasis 58 31 frequent (33%) Frequent (79-30%) HP:0100750
11 hydroureter 58 31 frequent (33%) Frequent (79-30%) HP:0000072
12 abnormal oral frenulum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000190
13 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
14 agenesis of permanent teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006349
15 commissural lip pit 58 31 frequent (33%) Frequent (79-30%) HP:0002710
16 imperforate hymen 58 31 frequent (33%) Frequent (79-30%) HP:0030011
17 agenesis of maxillary incisor 58 31 frequent (33%) Frequent (79-30%) HP:0200160
18 short fifth metatarsal 58 31 occasional (7.5%) Occasional (29-5%) HP:0004704
19 motor delay 58 Excluded (0%)
20 skin erosion 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Nails:
nail dysplasia

Head And Neck Mouth:
commissural lip pits

Skin Nails Hair Hair:
curly hair

Head And Neck Eyes:
ankyloblepharon filiform

Clinical features from OMIM:

214350

Drugs & Therapeutics for Chand Syndrome

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Wormwood Approved, Experimental Phase 3
2 Mugwort Phase 3
3
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
4 Pharmaceutical Solutions Phase 2
5 Anesthetics Phase 2
6 abobotulinumtoxinA Phase 2
7 Cholinergic Agents Phase 2
8 Botulinum Toxins Phase 2
9 Botulinum Toxins, Type A Phase 2
10 Neurotransmitter Agents Phase 2
11
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
12
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
13
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
14 Immunologic Factors Phase 1
15 Anti-Infective Agents Phase 1
16 Anti-Bacterial Agents Phase 1
17 Immunosuppressive Agents Phase 1
18 Antifungal Agents Phase 1
19 Antibiotics, Antitubercular Phase 1
20
Simvastatin Approved 79902-63-9 54454
21 Hypolipidemic Agents
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors
23 Lipid Regulating Agents
24 Anticholesteremic Agents
25 Antimetabolites

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Efficacy of Nail Gel Containing Artemisia Abrotanum Extract and Glycerin in Finger Nail Surface Abnormality Unknown status NCT02582762 Phase 3 Nail gel
2 A Multicenter, Four-Part, Phase 2/3 Study Evaluating the Safety and Efficacy of PTX-022 in the Treatment of Adults With Moderate to Severe Pachyonychia Congenita Recruiting NCT03920228 Phase 2, Phase 3 PTX-022;Placebo
3 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
4 Phase 1b Clinical Trial Using Topical Sirolimus for the Treatment of Pachyonychia Congenita Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
5 A Single-Center, Placebo-Controlled, Rising Dose to Tolerance and Safety Study of TD101, an siRNA Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
6 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
7 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511 Simvastatine
8 International Pachyonychia Congenita Research Registry Recruiting NCT02321423

Search NIH Clinical Center for Chand Syndrome

Cochrane evidence based reviews: nails, malformed

Genetic Tests for Chand Syndrome

Genetic tests related to Chand Syndrome:

# Genetic test Affiliating Genes
1 Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome 29 RIPK4

Anatomical Context for Chand Syndrome

MalaCards organs/tissues related to Chand Syndrome:

40
Skin, Tongue

Publications for Chand Syndrome

Articles related to Chand Syndrome:

(show all 11)
# Title Authors PMID Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 6 56 61
28940926 2017
2
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. 6 56 61
26129644 2015
3
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. 56 6
23610050 2013
4
Alveolar synechia-ankyloblepharon-ectodermal defects likely CHANDS. 61 56
8209899 1994
5
Re-evaluation of CHANDS. 61 56
490586 1979
6
Alveolar synechia, ankyloblepharon, and ectodermal disorders: an autosomal recessive disorder? 56
2012123 1991
7
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome. 61
29440852 2018
8
Hay-Wells syndrome in a child with mutation in the TP73L gene. 61
17910675 2007
9
Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. 61
15347331 2004
10
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 61
10886756 2000
11
CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome. 61
5173251 1971

Variations for Chand Syndrome

ClinVar genetic disease variations for Chand Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RIPK4 NM_020639.3(RIPK4):c.850G>A (p.Glu284Lys)SNV Pathogenic 585264 rs199835696 21:43166005-43166005 21:41745845-41745845
2 RIPK4 NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp)SNV Uncertain significance 561098 rs764278537 21:43171392-43171392 21:41751232-41751232

Expression for Chand Syndrome

Search GEO for disease gene expression data for Chand Syndrome.

Pathways for Chand Syndrome

GO Terms for Chand Syndrome

Sources for Chand Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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