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Kapur-Toriello syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINAL ANOMALIES Cleft lip/palate - facial, eye, heart and intestinal anomalies
Number of Symptoms	58
OrphanetNr:	2328
OMIM Id:	244300
ICD-10:	Q87.8
UMLs:	C0796005
MeSH:	C537008
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	4 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis
-Rare genetic disease
Orofacial clefting syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare maxillo-facial surgical disease
-Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000059)	Hypoplastic labia majora		22 / 7739
2	(HPO:0000079)	Abnormality of the urinary system		88 / 7739
3	(HPO:0000054)	Micropenis	Frequent [Orphanet]	257 / 7739
4	(HPO:0000028)	Cryptorchidism		347 / 7739
5	(HPO:0009765)	Low hanging columella		9 / 7739
6	(HPO:0000202)	Oral cleft	Very frequent [Orphanet]	120 / 7739
7	(HPO:0002162)	Low posterior hairline		88 / 7739
8	(HPO:0005105)	Abnormal nasal morphology	Very frequent [Orphanet]	114 / 7739
9	(HPO:0000414)	Bulbous nose		63 / 7739
10	(HPO:0000175)	Cleft palate		349 / 7739
11	(HPO:0000568)	Microphthalmia		183 / 7739
12	(HPO:0000470)	Short neck	Frequent [Orphanet]	345 / 7739
13	(HPO:0000204)	Cleft upper lip		193 / 7739
14	(HPO:0007744)	Iridoretinal coloboma		2 / 7739
15	(HPO:0000612)	Iris coloboma	Very frequent [Orphanet]	116 / 7739
16	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Very frequent [Orphanet]	142 / 7739
17	(HPO:0000589)	Coloboma		47 / 7739
18	(HPO:0000518)	Cataract		454 / 7739
19	(HPO:0000479)	Abnormality of the retina	Very frequent [Orphanet]	74 / 7739
20	(HPO:0000405)	Conductive hearing impairment		164 / 7739
21	(HPO:0000384)	Preauricular skin tag	Occasional [Orphanet]	62 / 7739
22	(HPO:0000372)	Abnormality of the auditory canal	Occasional [Orphanet]	49 / 7739
23	(HPO:0000357)	Abnormal location of ears	Very frequent [Orphanet]	328 / 7739
24	(HPO:0000369)	Low-set ears		372 / 7739
25	(HPO:0001250)	Seizures		1245 / 7739
26	(HPO:0006887)	Intellectual disability, progressive		68 / 7739
27	(HPO:0010864)	Intellectual disability, severe		120 / 7739
28	(HPO:0001852)	Sandal gap		63 / 7739
29	(HPO:0009473)	Joint contracture of the hand		84 / 7739
30	(HPO:0002650)	Scoliosis		705 / 7739
31	(HPO:0007598)	Bilateral single transverse palmar creases		13 / 7739
32	(HPO:0100490)	Camptodactyly of finger		212 / 7739
33	(HPO:0010557)	Overlapping fingers		9 / 7739
34	(HPO:0000954)	Single transverse palmar crease		162 / 7739
35	(HPO:0001864)	Clinodactyly of the 5th toe		6 / 7739
36	(HPO:0009778)	Short thumb		50 / 7739
37	(HPO:0002019)	Constipation	Frequent [Orphanet]	194 / 7739
38	(HPO:0002566)	Intestinal malrotation	Frequent [Orphanet]	89 / 7739
39	(HPO:0001511)	Intrauterine growth retardation		358 / 7739
40	(HPO:0004325)	Decreased body weight	Frequent [Orphanet]	492 / 7739
41	(HPO:0001629)	Ventricular septal defect	Occasional [Orphanet]	316 / 7739
42	(HPO:0001643)	Patent ductus arteriosus	Occasional [Orphanet]	228 / 7739
43	(HPO:0001636)	Tetralogy of Fallot	Occasional [Orphanet]	104 / 7739
44	(HPO:0001631)	Atria septal defect		274 / 7739
45	(OMIM)	Dysgenesis of the corpus callosum (1 patient)		2 / 7739
46	(HPO:0002536)	Abnormal cortical gyration	Occasional [Orphanet]	72 / 7739
47	(OMIM)	Atresia of external auditory canal		1 / 7739
48	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
49	(HPO:0001302)	Pachygyria		60 / 7739
50	(OMIM)	Delayed closing of the ductus arteriosus		1 / 7739
51	(HPO:0007227)	Macrogyria		9 / 7739
52	(HPO:0012815)	Hypoplastic female external genitalia	Frequent [Orphanet]	36 / 7739
53	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Occasional [Orphanet]	180 / 7739
54	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
55	(OMIM)	Anorectal malformation		1 / 7739
56	(HPO:0002126)	Polymicrogyria		64 / 7739
57	(OMIM)	Heterotopic kidney		1 / 7739
58	(OMIM)	Long columella		3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

In a brother and sister, the offspring of nonconsanguineous parents, Kapur and Toriello (1991) observed severe mental retardation and heart defects, cleft lip/palate, malrotation of intestine, displaced kidneys, and a characteristic appearance of the nose which was flat-tipped ... In a brother and sister, the offspring of nonconsanguineous parents, Kapur and Toriello (1991) observed severe mental retardation and heart defects, cleft lip/palate, malrotation of intestine, displaced kidneys, and a characteristic appearance of the nose which was flat-tipped and bulbous with an unusually long columella. The eye showed microphthalmia and coloboma of the iris. Chromosomal studies were negative. Zelante et al. (1999) reported an Italian boy with severe mental retardation and bilateral cleft lip/palate, microcephaly, flat-tipped nose with flared nostrils, long columella, and low-set posteriorly rotated ears. Ophthalmologic examination showed a choroidoretinal coloboma and hypoplasia of the optic nerve, and brain MRI showed dysgenesis of the corpus callosum. He also had marked constipation. There were no cardiac or urinary tract malformations. Yokoyama et al. (2008) reported a Mexican boy with severe mental retardation and bilateral cleft lip/palate, scaphocephaly, prominent coronal suture, broad nasal bridge with flat tip, flared nostrils, abnormal columella, and low-set posteriorly angulated ears. Ductus arteriosus closed spontaneously at age 2 years. Ophthalmologic evaluation showed bilateral retinal nerve coloboma, persistent pupillary membrane, and right microphthalmia. Brain MRI demonstrated bilateral parietooccipital pachygyria and polymicrogyria. Other features included occasional constipation, and conductive hearing loss; there were no renal anomalies on ultrasound. The phenotype was compatible with Kapur-Toriello syndrome. Robin et al. (2010) reported a female infant born with multiple anomalies, including left-sided cleft lip and palate, bilateral optic nerve colobomas, ventriculoseptal defect, imperforate anus, and Dandy-Walker anomaly with cerebral ventriculomegaly. Permanent tracheostomy was placed at 24 months due to persistent complications of bronchopulmonary dysplasia. Upon examination at 30 months of age, she had a tall forehead with marked metopic prominence that gave her a trigonocephalic skull shape, downslanting palpebral fissures, low-set ears, thin nasal bridge and prominent nasal tip, and columella that extended below the nares. She had generalized hypertonia and brisk reflexes. The distinctive columella prompted the diagnosis of Kapur-Toriello syndrome (KTS), making this the second female KTS patient to be reported. Robin et al. (2010) noted that both female patients manifested anorectal malformation, and suggested that this should be considered a component feature of the syndrome.

Symptoms & Signs

	Field	Query
	Disease
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