ACF
MCID: CYL001
MIFTS: 28

Cayler Cardiofacial Syndrome (ACF)

Categories: Cardiovascular diseases, Fetal diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Cayler Cardiofacial Syndrome

MalaCards integrated aliases for Cayler Cardiofacial Syndrome:

Name: Cayler Cardiofacial Syndrome 57 13
Congenital Unilateral Hypoplasia of Depressor Anguli Oris 58
Depressor Anguli Oris Muscle, Hypoplasia of 57
Facial Paresis, Partial, Unilateral 57
Isolated Asymmetric Crying Facies 58
Asymmetric Crying Facies; Acf 57
Asymmetric Crying Facies 57
Acf 57

Characteristics:

Orphanet epidemiological data:

58
congenital unilateral hypoplasia of depressor anguli oris
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
cayler cardiofacial syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Cayler Cardiofacial Syndrome

MalaCards based summary : Cayler Cardiofacial Syndrome, also known as congenital unilateral hypoplasia of depressor anguli oris, is related to digeorge syndrome and heart septal defect. An important gene associated with Cayler Cardiofacial Syndrome is ACF (Asymmetric Crying Facies (Cayler Cardiofacial Syndrome)). Affiliated tissues include heart and bone, and related phenotypes are abnormality of lower lip and asymmetric crying face

Wikipedia : 73 Asymmetric crying facies (ACF), also called partial unilateral facial paresis and hypoplasia of... more...

More information 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 top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 11.7
2 heart septal defect 10.4
3 cleft palate, isolated 10.4
4 tetralogy of fallot 10.4
5 hypoparathyroidism 10.4
6 tracheoesophageal fistula with or without esophageal atresia 10.3
7 pulmonary hypoplasia, primary 10.3
8 polydactyly 10.3
9 cyanosis, transient neonatal 10.3
10 patent foramen ovale 10.3
11 ventricular septal defect 10.3
12 atrial heart septal defect 10.3
13 situs inversus 10.2
14 dextrocardia 10.2
15 dextrocardia with situs inversus 10.2
16 ear malformation 10.1
17 hypertelorism 10.1
18 solitary median maxillary central incisor 10.1
19 neural tube defects 10.1
20 chromosome 2q35 duplication syndrome 10.1
21 vesicoureteral reflux 1 10.1
22 anus, imperforate 10.1
23 dandy-walker syndrome 10.1
24 hemihyperplasia, isolated 10.1
25 fryns microphthalmia syndrome 10.1
26 patent ductus arteriosus 1 10.1
27 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
28 immunodeficiency 79 10.1
29 aspiration pneumonia 10.1
30 congenital hypothyroidism 10.1
31 autosomal recessive disease 10.1
32 scoliosis 10.1
33 inguinal hernia 10.1
34 griscelli syndrome 10.1
35 spina bifida occulta 10.1
36 renal hypoplasia 10.1
37 benign teratoma 10.1
38 microcephaly 10.1
39 heart disease 10.1
40 facial paralysis 10.1
41 hypothyroidism 10.1
42 lymphangioma 10.1
43 ectropion 10.1
44 keratosis 10.1
45 hemangioma 10.1
46 cystic teratoma 10.1
47 cystic lymphangioma 10.1
48 teratoma 10.1
49 mature teratoma 10.1
50 neuroblastoma 10.1

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of lower lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000178
2 asymmetric crying face 58 31 hallmark (90%) Very frequent (99-80%) HP:0011333
3 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
4 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
8 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
9 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
10 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
11 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
12 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
13 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
14 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
15 multiple renal cysts 58 31 frequent (33%) Frequent (79-30%) HP:0005562
16 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
17 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
18 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
19 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
20 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
21 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
22 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
23 abnormality of the pulmonary artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004414
24 abnormal aortic morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001679
25 malformation of the heart and great vessels 58 Occasional (29-5%)
26 patent ductus arteriosus 31 HP:0001643
27 abnormality of the respiratory system 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
congenital heart defects

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 Vascular:
patent ductus arteriosus

Clinical features from OMIM®:

125520 (Updated 20-May-2021)

Drugs & Therapeutics for Cayler Cardiofacial Syndrome

Search Clinical Trials , 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:

40
Heart, Bone

Publications for Cayler Cardiofacial Syndrome

Articles related to Cayler Cardiofacial Syndrome:

(show all 27)
# Title Authors PMID Year
1
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. 61 57
7856669 1994
2
EYA1 mutation in a newborn female presenting with cardiofacial syndrome. 57
15493068 2004
3
A review of 35 cases of asymmetric crying facies. 57
15287415 2004
4
Vasomotor instability in neonates with chromosome 22q11 deletion syndrome. 57
12923863 2003
5
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. 57
9737780 1998
6
Monozygotic twins concordant for Cayler syndrome. 57
9450869 1998
7
Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients. 57
9217225 1997
8
Monozygotic twins with 22q11 deletion and discordant phenotypes. 57
8929959 1996
9
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. 57
8544199 1995
10
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. 57
7856665 1994
11
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. 57
8230157 1993
12
Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. 57
3815881 1986
13
Congenital asymmetrical crying facies. 57
7408369 1980
14
Familial asymmetric crying facies. Its occurrence secondary to hypoplasia of the anguli oris depressor muscles. 57
463824 1979
15
Congenital unilateral lower lip palsy. 57
495080 1979
16
Frequency of other malformations in congenital hypoplasia of depressor anguli oris muscle syndrome. 57
1008599 1976
17
Congenital hypoplasia of depressor anguli oris muscle. A genetically determined condition? 57
4447364 1974
18
Congenital hypoplasia of the depressor anguli oris muscle: differentiation from congenital facial palsy. 57
5034860 1972
19
Asymmetric crying facies: an index of other congenital anomalies. 57
5034867 1972
20
Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. 57
5765991 1969
21
Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report. 61
26254176 2015
22
[An infant with an asymmetric mouth when crying or laughing]. 61
26230342 2015
23
Cayler cardiofacial syndrome with situs inversus totalis. 61
24384797 2014
24
Associated anomalies in asymmetric crying facies and 22q11 deletion. 61
14577677 2003
25
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! 61
11339373 2001
26
Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. 61
9779813 1998
27
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. 61
10464633 1997

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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