ACF
MCID: CYL001
MIFTS: 32

Cayler Cardiofacial Syndrome (ACF)

Categories: Cardiovascular diseases, Fetal diseases, Rare 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 digeorge 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 Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, 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

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 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Central Nervous System Stimulants Phase 4
5 Psychotropic Drugs Phase 4
6 Dopamine Agents Phase 4
7 Dopamine Antagonists Phase 4
8 Central Nervous System Depressants Phase 4,Phase 1,Phase 2
9 Antipsychotic Agents Phase 4
10 Serotonin Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
12 Serotonin Antagonists Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Dopamine Uptake Inhibitors 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
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
19
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
20
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
21
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
22
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
23
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
24
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
25
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
26
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
27
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
28
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
29
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
30
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
31
alemtuzumab Approved, Investigational Phase 2 216503-57-0
32
Melphalan Approved Phase 2 148-82-3 4053 460612
33
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
34
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
35 alpha-methyltyrosine Phase 2
36 Anesthetics Phase 2,Phase 1
37 Immunologic Factors Phase 1, Phase 2,Phase 2
38 Hormone Antagonists Phase 1, Phase 2
39 Hormones Phase 1, Phase 2
40 Immunoglobulins Phase 1, Phase 2,Phase 2
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
42 Antineoplastic Agents, Hormonal Phase 1, Phase 2
43 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
44 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
45 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
46 Histamine Antagonists Phase 1, Phase 2
47 Methylprednisolone acetate Phase 1, Phase 2
48 Histamine H1 Antagonists Phase 1, Phase 2
49 Antifungal Agents Phase 1, Phase 2,Phase 2
50 Thymoglobulin Phase 1, Phase 2

Interventional clinical trials:

(show all 35)
# 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) 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 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
32 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
33 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
34 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
35 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:

41
Heart, Bone, Eye, Lung

Publications for Cayler Cardiofacial Syndrome

Articles related to Cayler Cardiofacial Syndrome:

(show all 41)
# Title Authors Year
1
Congenital asymmetric crying facies syndrome: A case report. ( 30075506 )
2018
2
Congenital hypoplasia of depressor anguli oris muscle (CHDAOM): an uncommon cause of asymmetric crying facies in childhood. ( 30355578 )
2018
3
Asymmetric Crying Facies with Multiple Congenital Malformations: a Case Report. ( 28693695 )
2017
4
Asymmetric crying facies in a neonate with congenital hypoplasia of depressor anguli oris muscle (CHDAOM). ( 27011644 )
2016
5
Cayler cardiofacial syndrome with situs inversus totalis. ( 24384797 )
2014
6
Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening. ( 24137031 )
2013
7
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
8
Asymmetric crying facies with a couple of primary mandibular central incisor and 22q11 deletion. ( 20831138 )
2010
9
Botulinum toxin for the correction of asymmetric crying facies. ( 19944999 )
2009
10
Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant. ( 18237235 )
2008
11
Neonatal asymmetric crying facies: a new look at an old problem. ( 15735828 )
2005
12
Asymmetric crying facies: a possible marker for congenital malformations. ( 16318980 )
2005
13
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. ( 15214756 )
2004
14
A review of 35 cases of asymmetric crying facies. ( 15287415 )
2004
15
Association of asymmetric crying facies and pulmonary agenesis: a new syndrome? ( 15322864 )
2004
16
Asymmetric crying facies associated with hemihypertrophy: report of one case. ( 12845851 )
2003
17
Collodion baby associated with asymmetric crying facies: a case report. ( 12657010 )
2003
18
Congenital asymmetric crying facies and agenesis of corpus callosum. ( 12581812 )
2003
19
Associated anomalies in asymmetric crying facies and 22q11 deletion. ( 14577677 )
2003
20
An infant with asymmetric crying facies and cystic lymphangioma. ( 12139146 )
2002
21
Asymmetric crying facies and congenital hypothyroidism: report of two patients. ( 11592580 )
2001
22
Asymmetric crying facies and associated congenital anomalies: the contribution of 22q11 microdeletions. ( 11669357 )
2001
23
[Congenital malformations and asymmetric crying facies]. ( 11424798 )
2000
24
Asymmetric crying facies. ( 11119346 )
2000
25
Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature. ( 11198496 )
2000
26
Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. ( 9779813 )
1998
27
Two patients with asymmetric crying facies, normal cardiovascular systems and deletion of chromosome 22q11. ( 9134298 )
1997
28
Asymmetric crying facies: an index of other malformations. ( 8701498 )
1996
29
22q11 deletion: a cause of asymmetric crying facies. ( 8813885 )
1996
30
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. ( 7856669 )
1994
31
Asymmetric crying facies: the cardiofacial syndrome. ( 1303422 )
1992
32
Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. ( 3815881 )
1986
33
Occurrence of neuroblastoma and asymmetric crying facies: case report and review of the literature. ( 4020554 )
1985
34
Asymmetric crying facies: which is the 'right-wrong' side? ( 6848971 )
1983
35
Asymmetric crying facies: an alternative interpretation. ( 7355012 )
1980
36
Asymmetric crying facies: a possible marker for congenital malformations. ( 7419978 )
1980
37
Familial asymmetric crying facies. Its occurrence secondary to hypoplasia of the anguli oris depressor muscles. ( 463824 )
1979
38
Asymmetric crying facies and congenital eye defects in an infant. ( 96660 )
1978
39
Association of asymmetric crying facies, malformation of the ear and pulmonary agenesis. ( 1023758 )
1976
40
Asymmetric crying facies and congenital anomalies. ( 4783003 )
1973
41
Asymmetric crying facies: an index of other congenital anomalies. ( 5034867 )
1972

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

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7 CNVD
9 Cosmic
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17 ExPASy
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45 MESH via Orphanet
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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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