Kapur-Toriello Syndrome

Clinical Features

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, making this the second female patient with this diagnosis 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.

Lefroy et al. (2015) reported a 15-year-old boy, born to nonconsanguineous parents, with complex heart defects, bilateral cleft lip and palate, unilateral clinical anophthalmia, narrow nasal bridge with bulbous tip, wide columella extending below the nares, short wide neck, profound scoliosis, cervical and thoracic hemivertebrae, and mild developmental delay. He had bilateral proximally placed thumbs, unilateral absent thumb creases, and flexion contractures of several fingers. Brain MRI showed hypoplasia of the corpus callosum and a small shallow pituitary fossa. Since birth he had feeding difficulties and required gastrostomy and fundoplication. He also had short stature and growth hormone deficiency, features not previously reported in Kapur-Toriello syndrome.