MCID: CYL001
MIFTS: 35

Cayler Cardiofacial Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cayler Cardiofacial Syndrome

MalaCards integrated aliases for Cayler Cardiofacial Syndrome:

Name: Cayler Cardiofacial Syndrome 58 13
Congenital Unilateral Hypoplasia of Depressor Anguli Oris 60
Depressor Anguli Oris Muscle, Hypoplasia of 58
Facial Paresis, Partial, Unilateral 58
Isolated Asymmetric Crying Facies 60
Asymmetric Crying Facies; Acf 58
Asymmetric Crying Facies 58
Acf 58

Characteristics:

Orphanet epidemiological data:

60
congenital unilateral hypoplasia of depressor anguli oris
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects
up to 50% of patients may have various additional congenital anomalies


HPO:

33
cayler cardiofacial syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cayler Cardiofacial Syndrome

MalaCards based summary : Cayler Cardiofacial Syndrome, also known as congenital unilateral hypoplasia of depressor anguli oris, is related to cleft palate, cardiac defect, genital anomalies, and ectrodactyly and digeorge syndrome. An important gene associated with Cayler Cardiofacial Syndrome is ACF (Asymmetric Crying Facies (Cayler Cardiofacial Syndrome)). The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include thymus, bone and heart, and related phenotypes are abnormality of lower lip and asymmetric crying face

Wikipedia : 77 Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial... more...

Description from OMIM: 125520

Related Diseases for Cayler Cardiofacial Syndrome

Graphical network of the top 20 diseases related to Cayler Cardiofacial Syndrome:



Diseases related to Cayler Cardiofacial Syndrome

Symptoms & Phenotypes for Cayler Cardiofacial Syndrome

Human phenotypes related to Cayler Cardiofacial Syndrome:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of lower lip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000178
2 asymmetric crying face 60 33 hallmark (90%) Very frequent (99-80%) HP:0011333
3 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
4 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
5 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
6 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
7 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
8 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
9 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
10 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
11 renal hypoplasia/aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0008678
12 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
13 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
14 multiple renal cysts 60 33 frequent (33%) Frequent (79-30%) HP:0005562
15 vesicoureteral reflux 60 33 frequent (33%) Frequent (79-30%) HP:0000076
16 reduced number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0009804
17 congenital diaphragmatic hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000776
18 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
19 abnormality of the hip bone 60 33 occasional (7.5%) Occasional (29-5%) HP:0003272
20 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
21 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
22 vertebral segmentation defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0003422
23 abnormality of the pulmonary artery 60 33 occasional (7.5%) Occasional (29-5%) HP:0004414
24 abnormal aortic morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001679
25 malformation of the heart and great vessels 60 Occasional (29-5%)
26 patent ductus arteriosus 33 HP:0001643
27 abnormality of the respiratory system 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
asymmetric facies while crying
unilateral hypoplasia of the depressor anguli oris muscle
unilateral weakness of the depressor anguli oris muscle

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
congenital heart defects

Clinical features from OMIM:

125520

Drugs & Therapeutics for Cayler Cardiofacial Syndrome

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

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Early Phase 1 62-31-7, 51-61-6 681
2
Risperidone Approved, Investigational Phase 4,Early Phase 1 106266-06-2 5073
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Dopamine Uptake Inhibitors Phase 4
5 Psychotropic Drugs Phase 4,Early Phase 1
6 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
7 Dopamine Antagonists Phase 4,Early Phase 1
8 Serotonin Antagonists Phase 4,Early Phase 1
9 Neurotransmitter Uptake Inhibitors Phase 4
10 Central Nervous System Stimulants Phase 4
11 Dopamine Agents Phase 4,Early Phase 1
12 Tranquilizing Agents Phase 4,Early Phase 1
13 Antipsychotic Agents Phase 4,Early Phase 1
14 Serotonin Agents Phase 4,Early Phase 1
15 Central Nervous System Depressants Phase 4,Phase 1,Phase 2,Early Phase 1
16
Serotonin Investigational, Nutraceutical Phase 4,Early Phase 1 50-67-9 5202
17
Parathyroid hormone Approved, Investigational Phase 3,Phase 2,Phase 1 9002-64-6
18
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1 7440-70-2 271
19 Calcium, Dietary Phase 3,Phase 2,Phase 1
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
21
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
22
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
23
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
24
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
25
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
26
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
27
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
28
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
29
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
30
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
31
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
32
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
33
alemtuzumab Approved, Investigational Phase 2 216503-57-0
34
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
35
Melphalan Approved Phase 2 148-82-3 460612 4053
36
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
37 alpha-methyltyrosine Phase 2
38 Anesthetics Phase 2,Phase 1
39 Hormones Phase 2,Phase 1
40 Antineoplastic Agents, Hormonal Phase 1, Phase 2
41 Protective Agents Phase 1, Phase 2
42 Cyclosporins Phase 1, Phase 2,Phase 2
43 Antipyretics Phase 1, Phase 2
44 Histamine Antagonists Phase 1, Phase 2
45 Antirheumatic Agents Phase 1, Phase 2,Phase 2
46 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
47 Methylprednisolone Acetate Phase 1, Phase 2
48 Peripheral Nervous System Agents Phase 1, Phase 2,Early Phase 1
49 Anti-Infective Agents Phase 1, Phase 2,Phase 2
50 Prednisolone acetate Phase 1, Phase 2

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
2 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
3 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
4 Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
5 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
6 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
7 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
8 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
9 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
10 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
11 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
12 Serum-Free Thymus Transplantation in DiGeorge Anomaly Terminated NCT00849888 Phase 1
13 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
14 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
15 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
16 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Unknown status NCT02890472
17 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
18 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
19 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
20 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
21 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
22 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
23 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
24 Infection in DiGeorge Following CHD Surgery Terminated NCT00278005
25 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome Recruiting NCT03375359
26 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Completed NCT02634671 Not Applicable
27 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
28 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457
29 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
30 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
31 Reducing the Abuse of Opioids in Drug Users Recruiting NCT03837860 Early Phase 1 Oxycodone/Placebo;Oxycodone/Risperidone;Oxycodone/Ziprasidone
32 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
33 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
34 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
35 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
36 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate

Search NIH Clinical Center for Cayler Cardiofacial Syndrome

Genetic Tests for Cayler Cardiofacial Syndrome

Anatomical Context for Cayler Cardiofacial Syndrome

MalaCards organs/tissues related to Cayler Cardiofacial Syndrome:

42
Thymus, Bone, Heart, Whole Blood, Lung

Publications for Cayler Cardiofacial Syndrome

Articles related to Cayler Cardiofacial Syndrome:

# Title Authors Year
1
Cayler cardiofacial syndrome with situs inversus totalis. ( 24384797 )
2014
2
Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. ( 9779813 )
1998
3
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. ( 7856669 )
1994

Variations for Cayler Cardiofacial Syndrome

Expression for Cayler Cardiofacial Syndrome

Search GEO for disease gene expression data for Cayler Cardiofacial Syndrome.

Pathways for Cayler Cardiofacial Syndrome

GO Terms for Cayler Cardiofacial Syndrome

Sources for Cayler Cardiofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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