Kasznica Carlson Coppedge syndrome
Overview
A very rare syndrome characterized mainly by missing fingers or cleft hand, spina bifida and heart disease
Symptoms
* Small jaw * Myelomeningocele * Ventricular septal defect * High arched palate * Foot anomaly * Ear anomaly * Congenital heart anomaly * Ectrodactyly * Abnormal ears * Single umbilical artery
Causes
* Developmental agenesis or hypoplasia –No clear sex ratio –Males more likely to have associated malformations –Increased incidence in twins, either mono- or dizygotic –Increased incidence of placental anomalies –More common in low birth weight infants –More common in premature infants * Associated maternal factors –Maternal diabetes –Maternal epilepsy –Toxemia * Intrauterine thrombosis of other umbilical artery * Malformations are associated with SUA in 45% of cases –Genitourinary (33%): Renal agenesis, dysgenesis, hypoplasia; ambiguous genitalia –Musculoskeletal (37%): Clubfoot, vertebral anomalies –Cardiovascular (30%): Patent ductus arteriosus, ventricular septal defect, dextrocardia –Gastrointestinal (28%): Imperforate anus, tracheoesophageal fistula –Respiratory (9%): Pulmonary hypoplasia (malformations due to disruption of blood flow), sirenomelia * Chromosomal anomalies –Trisomy 18
Diagnosis
* Home Sleep Tests * Sleep Apnea Tests
Treatment
* No treatment if anomaly is isolated * Treat GI obstruction or urologic anomalies accordingly * Many infants with chromosomal anomalies are stillborn or die soon after birth * Genetic counseling regarding possible future risk associated with chromosomal anomalies