ACF
MCID: CYL001
MIFTS: 36

Cayler Cardiofacial Syndrome (ACF)

Categories: Fetal diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Cayler Cardiofacial Syndrome

MalaCards integrated aliases for Cayler Cardiofacial Syndrome:

Name: Cayler Cardiofacial Syndrome 57
Asymmetric Crying Facies 57 13
Congenital Unilateral Hypoplasia of Depressor Anguli Oris 59
Depressor Anguli Oris Muscle, Hypoplasia of 57
Facial Paresis, Partial, Unilateral 57
Isolated Asymmetric Crying Facies 59
Asymmetric Crying Facies; Acf 57
Acf 57

Characteristics:

Orphanet epidemiological data:

59
congenital unilateral hypoplasia of depressor anguli oris
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

57
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:

32
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 asymmetric crying facies, is related to velocardiofacial syndrome and cleft palate, cardiac defect, genital anomalies, and ectrodactyly. An important gene associated with Cayler Cardiofacial Syndrome is ACF (Asymmetric Crying Facies (Cayler Cardiofacial Syndrome)). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include thymus, bone and heart, and related phenotypes are respiratory insufficiency and global developmental delay

Wikipedia : 76 Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial... more...

Description from OMIM: 125520

Related Diseases for Cayler Cardiofacial Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 11.5
2 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.2
3 situs inversus 10.2
4 dextrocardia with situs inversus 10.2
5 solitary median maxillary central incisor 10.0
6 griscelli syndrome 10.0
7 hypoparathyroidism 10.0
8 lymphangioma 10.0
9 cystic lymphangioma 10.0
10 limb reduction defect 10.0
11 adenoma 10.0
12 colorectal cancer 9.9
13 rheumatoid arthritis 9.9
14 arthritis 9.9
15 depression 9.9

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



Diseases related to Cayler Cardiofacial Syndrome

Symptoms & Phenotypes for Cayler Cardiofacial Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cayler Cardiofacial Syndrome:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
2 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
3 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
4 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
5 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
6 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
7 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
8 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
9 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
10 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
11 renal hypoplasia/aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008678
12 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
13 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
14 multiple renal cysts 59 32 frequent (33%) Frequent (79-30%) HP:0005562
15 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
16 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
17 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
18 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
19 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
20 abnormality of the pulmonary artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0004414
21 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
22 abnormal aortic morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001679
23 abnormality of lower lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000178
24 asymmetric crying face 59 32 hallmark (90%) Very frequent (99-80%) HP:0011333
25 malformation of the heart and great vessels 59 Occasional (29-5%)
26 patent ductus arteriosus 32 HP:0001643
27 abnormality of the respiratory system 59 Occasional (29-5%)

Drugs & Therapeutics for Cayler Cardiofacial Syndrome

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4 Antipsychotic Agents Phase 4
5 Central Nervous System Depressants Phase 4
6 Central Nervous System Stimulants Phase 4
7 Dopamine Agents Phase 4
8 Dopamine Antagonists Phase 4
9 Dopamine Uptake Inhibitors Phase 4
10 Neurotransmitter Agents Phase 4
11 Neurotransmitter Uptake Inhibitors Phase 4
12 Psychotropic Drugs Phase 4
13 Serotonin Agents Phase 4
14 Serotonin Antagonists Phase 4
15 Tranquilizing Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17 Calcium, Dietary Phase 3,Phase 2,Phase 1
18
alemtuzumab Approved, Investigational Phase 2 216503-57-0
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
23
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
24
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
25
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2,Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
27
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
28
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
29
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
30 Hormones Phase 1, Phase 2
31 Alkylating Agents Phase 2
32 Antimetabolites Phase 2
33 Antimetabolites, Antineoplastic Phase 2
34 Antineoplastic Agents, Alkylating Phase 2
35 Immunosuppressive Agents Phase 2,Phase 1
36 Anesthetics Phase 2,Phase 1
37 Analgesics Phase 1, Phase 2
38 Analgesics, Non-Narcotic Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2
40 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
41 Antiemetics Phase 1, Phase 2
42 Antifungal Agents Phase 1, Phase 2,Phase 2
43 Anti-Infective Agents Phase 1, Phase 2,Phase 2
44 Anti-Inflammatory Agents Phase 1, Phase 2
45 Antilymphocyte Serum Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47 Antipyretics Phase 1, Phase 2
48 Antirheumatic Agents Phase 1, Phase 2,Phase 2
49 Antitubercular Agents Phase 1, Phase 2,Phase 2
50 Autonomic Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 33)
# 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 Completed NCT00395538 Phase 3 PTH 1-34
3 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
4 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
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 Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
9 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
10 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 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 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
17 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Unknown status NCT02787486
18 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
19 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
20 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
21 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
22 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
23 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Completed NCT02634671 Not Applicable
24 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
25 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
26 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
27 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
28 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome Recruiting NCT03375359
29 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
30 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
31 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
32 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Enrolling by invitation NCT02890472
33 Infection in DiGeorge Following CHD Surgery Terminated NCT00278005

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:

41
Thymus, Bone, Heart, Whole Blood

Publications for Cayler Cardiofacial Syndrome

Articles related to Cayler Cardiofacial Syndrome:

(show all 12)
# Title Authors Year
1
Cayler cardiofacial syndrome with situs inversus totalis. ( 24384797 )
2014
2
Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening. ( 24137031 )
2013
3
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features. ( 21167328 )
2011
4
Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant. ( 18237235 )
2008
5
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. ( 15214756 )
2004
6
Asymmetric crying facies associated with hemihypertrophy: report of one case. ( 12845851 )
2003
7
Collodion baby associated with asymmetric crying facies: a case report. ( 12657010 )
2003
8
An infant with asymmetric crying facies and cystic lymphangioma. ( 12139146 )
2002
9
[Congenital malformations and asymmetric crying facies]. ( 11424798 )
2000
10
Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. ( 9779813 )
1998
11
Two patients with asymmetric crying facies, normal cardiovascular systems and deletion of chromosome 22q11. ( 9134298 )
1997
12
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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