Kapur Toriello syndrome
Overview
A rare disorder characterized by severe mental retardation, cleft lip, cleft palate, long columella (tissue that separates the nostrils) and eye, heart and intestinal abnormalities
Symptoms
* Severe mental retardation * Cleft lip * Cleft palate * Flat nasal tip * Bulbous nasal tip * Long columella * Small eyes * Cardiac septal defect * Intestinal malrotation
Causes
* Cleft lip with or without cleft palate –Incidence 1/500–1/2,500 –Highest incidence among Native Americans –Defects are unilateral in 80% –More common in boys –Pathogenesis is multifactorial * Isolated cleft palate –Incidence 1/2,000 –More common in girls * Pierre-Robin sequence –Micrognathia, glossoptosis (posterior displacement of the tongue to pharynx), and cleft palate –Incidence 1/2,000–1/30,000 –Mortality 2.2–26% * Syndrome-associated cleft lip with or without cleft palate –Accounts for 30% of cases –Over 300 syndromes include this phenotype –Stickler syndrome (25%): Pierre-Robin sequence with severe progressive myopia and arthritis in young adulthood –Velocardiofacial syndrome (15%): Slender hands and fingers, cardiac defects (TOF, VSD, right aortic arch), prominent nose; deletion of 22q11.21 –DiGeorge syndrome: Thymic hypoplasia, hypoparathyroidism, cardiac defects (truncus arteriosus, interrupted aortic arch) same spectrum at velocardial facial with same deletion of 22q –Trisomy 13: Microcephaly, cutis aplasia, polydactyly cardiac defects –Trisomy 18: Low-set ears, clenched hands, rocker bottom feet, cardiac defects –van der Woude syndrome: Cleft palate associated with lip pits * Cause associated with maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency * Fetal alcohol syndrome * Treacher Collins syndrome
Treatment
* Neonatal support is largely nutritional –Patients with velopharyngeal insufficiency are at risk for aspiration –Breastfeeding may or may not be possible depending on the location and size of the defect –Specialized bottles and nipples may be required to accomplish adequate feeding * Surgical correction (usually in 2–4 stages) with surgical priorities being prevention of regurgitation and aspiration, enabling of speech production, and cosmetic result –In patients with delayed surgical correction, a prosthesis may be necessary to compensate for velopharyngeal insufficiency and to enhance speech development –Speech therapy –Monitoring for otitis media –Referral to a geneticist for genetic testing and consideration of risk with subsequent pregnancies