VELOCARDIOFACIAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: SHPRINTZEN VCF SYNDROME
VCF SYNDROME
VCFS
CHROMOSOME 22q11.2 DELETION SYNDROME
Number of Symptoms 53
OrphanetNr:
OMIM Id: 192430
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000201) Pierre-Robin sequence 20 / 7739
2
(HPO:0000220) Velopharyngeal insufficiency 10 / 7739
3
(HPO:0000414) Bulbous nose 63 / 7739
4
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0000278) Retrognathia 100 / 7739
7
(HPO:0000252) Microcephaly 832 / 7739
8
(HPO:0000194) Open mouth 70 / 7739
9
(HPO:0000581) Blepharophimosis 197 / 7739
10
(HPO:0000627) Posterior embryotoxon 15 / 7739
11
(HPO:0000598) Abnormality of the ear 98 / 7739
12
(HPO:0001328) Specific learning disability 114 / 7739
13
(HPO:0001249) Intellectual disability 1089 / 7739
14
(HPO:0011999) Paranoia 6 / 7739
15
(HPO:0000720) Mood swings 6 / 7739
16
(HPO:0000718) Aggressive behavior 109 / 7739
17
(HPO:0000818) Abnormality of the endocrine system 26 / 7739
18
(HPO:0001155) Abnormality of the hand 54 / 7739
19
(HPO:0000023) Inguinal hernia 181 / 7739
20
(HPO:0001537) Umbilical hernia 206 / 7739
21
(HPO:0004322) Short stature 1232 / 7739
22
(HPO:0001636) Tetralogy of Fallot 104 / 7739
23
(HPO:0002627) Right aortic arch with mirror image branching 5 / 7739
24
(HPO:0012020) Right aortic arch 9 / 7739
25
(HPO:0001629) Ventricular septal defect 316 / 7739
26
(HPO:0005435) Impaired T cell function rare [HPO:skoehler] 9 / 7739
27
(HPO:0002901) Hypocalcemia 56 / 7739
28
(HPO:0001611) Nasal speech 48 / 7739
29
(HPO:0006549) Unilateral primary pulmonary dysgenesis 2 / 7739
30
(HPO:0002719) Recurrent infections 107 / 7739
31
(HPO:0001252) Muscular hypotonia 990 / 7739
32
(MedDRA:10035009) Pierre Robin syndrome 1 / 7739
33
(OMIM) Small optic discs 1 / 7739
34
(OMIM) Square nasal root 1 / 7739
35
(OMIM) Blunt or inappropriate affect 1 / 7739
36
(HPO:0012841) Retinal vascular tortuosity 3 / 7739
37
(OMIM) Congenital abnormality in 85% 1 / 7739
38
(OMIM) Decreased nasopharyngeal lymphoid tissue 1 / 7739
39
(OMIM) Monosomy for 22q11 1 / 7739
40
(OMIM) Internal carotid artery abnormalities 1 / 7739
41
(OMIM) Psychotic illness 1 / 7739
42
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
43
(OMIM) Slender hands and digits 1 / 7739
44
(OMIM) Long 1 / 7739
45
(OMIM) [DEL]Autistic features 43 / 7739
46
(OMIM) Prominent tubular nose 1 / 7739
47
(OMIM) Neonatal hypocalcemia, rare 1 / 7739
48
(OMIM) Tortuous retinal vessels 1 / 7739
49
(OMIM) Small open mouth 1 / 7739
50
(OMIM) Pharyngeal hypotonia 1 / 7739
51
(OMIM) Minor auricular anomalies 1 / 7739
52
(OMIM) Aberrant left subclavian 1 / 7739
53
(OMIM) Frequent infections T-lymphocyte dysfunction, rare 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The del22q11 syndrome is associated with a highly variable phenotype despite the uniformity of the chromosomal deletion that causes the syndrome in most patients.

Shprintzen et al. (1981) reported on 39 patients with a syndrome characterized ...

Genotype-Phenotype Correlations OMIM McDonald-McGinn et al. (2001) reported on 30 individuals with the 22q11 deletion that were identified following the diagnosis in a relative. Sixty percent of patients had no visceral anomalies. In fact, only 6 of the 19 adults (32%) ...
Molecular genetics OMIM Using a YAC clone containing the VCFS critical region on chromosome 22q11 as a substrate for cDNA selection, Sirotkin et al. (1996) derived a cDNA that encodes a clathrin heavy chain gene (CLTD; 601273). FISH studies revealed that ...