MCID: KPR002
MIFTS: 26

Kapur-Toriello Syndrome

Categories: Fetal diseases, Gastrointestinal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kapur-Toriello Syndrome

MalaCards integrated aliases for Kapur-Toriello Syndrome:

Name: Kapur-Toriello Syndrome 56 74 58
Kapur Toriello Syndrome 52 71
Long Columella with Cleft Lip/palate and Eye, Heart, and Intestinal Anomalies 56
Long Columella with Cleft Lip/palate and Eye, Heart and Intestinal Anomalies 52
Cleft Lip/palate-Facial, Eye, Heart and Intestinal Anomalies Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
kapur-toriello syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
kapur-toriello syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Kapur-Toriello Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2328 Definition Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Epidemiology Only four cases have been reported in the literature, in three unrelated families. Clinical description Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. Genetic counseling The condition seems to be inherited as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Kapur-Toriello Syndrome, also known as kapur toriello syndrome, is related to cleft lip and cleft lip/palate, and has symptoms including seizures and constipation. Affiliated tissues include eye, heart and retina, and related phenotypes are low-set ears and intellectual disability

Wikipedia : 74 Kapur-Toriello syndrome is a rare autosomal recessive genetic disorder. The defining feature of... more...

More information from OMIM: 244300

Related Diseases for Kapur-Toriello Syndrome

Diseases related to Kapur-Toriello Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft lip 10.7
2 cleft lip/palate 10.7
3 coloboma of macula 10.4
4 vesicoureteral reflux 1 10.4
5 anus, imperforate 10.4
6 autosomal recessive disease 10.4
7 hypospadias 10.4
8 cerebral atrophy 10.4
9 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.4

Graphical network of the top 20 diseases related to Kapur-Toriello Syndrome:



Diseases related to Kapur-Toriello Syndrome

Symptoms & Phenotypes for Kapur-Toriello Syndrome

Human phenotypes related to Kapur-Toriello Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
4 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
5 iris coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000612
6 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
7 oral cleft 58 31 hallmark (90%) Very frequent (99-80%) HP:0000202
8 retinal coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000480
9 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
10 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
11 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
12 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
13 hypoplastic labia majora 58 31 frequent (33%) Frequent (79-30%) HP:0000059
14 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
15 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
16 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
17 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
18 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
19 atresia of the external auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0000413
20 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
21 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
22 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
23 seizures 31 HP:0001250
24 scoliosis 31 HP:0002650
25 cataract 31 HP:0000518
26 cryptorchidism 31 HP:0000028
27 intrauterine growth retardation 31 HP:0001511
28 intellectual disability, severe 31 HP:0010864
29 cleft palate 31 HP:0000175
30 low posterior hairline 31 HP:0002162
31 atrial septal defect 31 HP:0001631
32 intellectual disability, progressive 31 HP:0006887
33 micropenis 31 HP:0000054
34 low hanging columella 31 HP:0009765
35 cleft upper lip 31 HP:0000204
36 conductive hearing impairment 31 HP:0000405
37 bilateral single transverse palmar creases 31 HP:0007598
38 abnormality of the urinary system 31 HP:0000079
39 short thumb 31 HP:0009778
40 camptodactyly of finger 31 HP:0100490
41 single transverse palmar crease 31 HP:0000954
42 overlapping fingers 31 HP:0010557
43 joint contracture of the hand 31 HP:0009473
44 clinodactyly of the 5th toe 31 HP:0001864

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
hearing loss, conductive
preauricular tags
atresia of external auditory canal

Neurologic Central Nervous System:
seizures
mental retardation, severe
dysgenesis of the corpus callosum (1 patient)
polymicrogyria (1 patient)
pachygyria (1 patient)

Abdomen Gastrointestinal:
constipation
intestinal malrotation
anorectal malformation

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect
atrial septal defect
delayed closing of the ductus arteriosus

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Nose:
bulbous nose
long columella

Skeletal Feet:
fifth toe clinodactyly
widely spaced first and second toe

Genitourinary Kidneys:
heterotopic kidney

Head And Neck Neck:
short neck
low posterior hairline

Skeletal Spine:
scoliosis

Head And Neck Eyes:
cataract
microphthalmia
coloboma (iris and retina)

Growth Other:
intrauterine growth retardation

Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Hands:
bilateral single transverse palmar creases
overlapping fingers
finger contractures
hypoplastic thumb

Genitourinary External Genitalia Female:
hypoplastic labia majora

Genitourinary External Genitalia Male:
small penis

Clinical features from OMIM:

244300

UMLS symptoms related to Kapur-Toriello Syndrome:


seizures, constipation

Drugs & Therapeutics for Kapur-Toriello Syndrome

Search Clinical Trials , NIH Clinical Center for Kapur-Toriello Syndrome

Genetic Tests for Kapur-Toriello Syndrome

Anatomical Context for Kapur-Toriello Syndrome

MalaCards organs/tissues related to Kapur-Toriello Syndrome:

40
Eye, Heart, Retina, Kidney, Skin

Publications for Kapur-Toriello Syndrome

Articles related to Kapur-Toriello Syndrome:

# Title Authors PMID Year
1
Kapur-Toriello syndrome: a further case report and expansion of the phenotype. 61 56
26049588 2015
2
Further delineation of the Kapur-Toriello syndrome. 61 56
20358618 2010
3
Kapur-Toriello syndrome: further delineation. 61 56
18831061 2008
4
Confirmation of Kapur-Toriello syndrome in an Italian patient. 61 56
10319207 1999
5
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies. 56
1776630 1991
6
Achiasma and Kapur-Toriello syndrome: Two rare entities. 61
31245653 2019

Variations for Kapur-Toriello Syndrome

Expression for Kapur-Toriello Syndrome

Search GEO for disease gene expression data for Kapur-Toriello Syndrome.

Pathways for Kapur-Toriello Syndrome

GO Terms for Kapur-Toriello Syndrome

Sources for Kapur-Toriello Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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