Cornelia de Lange Syndrome (Brachmann-de Lange Syndrome)

This newborn has Cornelia de Lange syndrome, a disorder characterized by prenatal growth retardation (this child weighed 2240 g at birth and measured 46 cm in length), microbrachycephaly, bushy eyebrows, long eyelashes, short neck, low posterior hair line, depressed nasal bridge, anteverted nares, long philtrum, thin upper lip, downturned corners of mouth, micrognathia, a single umbilical artery, phocomelia, micromelia, and oligodactyly.

Other features of this syndrome include feeding difficulties, failure to thrive, low-pitched cry in infancy, mental retardation, hypertrichosis, epicanthus, microphthalmos with eccentric pupils, microcornea, corneal opacities, optic atrophy, strabismus, astigmatism, myopia, ptosis, nystagmus, high arched palate, cleft palate, delayed eruption of widely spaced teeth, low-set ears, hearing loss, nuchal webbing, syndactyly of second and third toes, clinodactyly, proximally placed thumbs, flexion contractures of elbow, delayed osseous metrication, hypertonicity, simian crease, cutis marmorata, hypoplastic nipples, congenital heart defect, hypospadias, genital hypoplasia, and cryptorchidism. Some patients are autistic, have seizures, and demonstrate self-mutilating behavior. Most are infertile. The typical patient has invoked the adage “once seen, never forgotten.”

The syndrome was first reported by Cornelia de Lange in 1933. However, Brachmann had described a child with similar findings at autopsy in 1916. The syndrome occurs in approximately 1 in 10,000 to 20,000 live births. The occurrence is predominantly sporadic, although cases of autosomal dominant inheritance have also been reported.

Patients with Cornelia de Lange syndrome have a shorter life span than persons in the general population. Aspiration, apnea, bowel obstruction, and cardiac defects constitute the major hazards to survival.