Cornelia de Lange syndrome

Prevalence and causes

This syndrome, also known as Brachmann-de Lange syndrome, was first described by de Lange in 1933 as a multisystem disorder which includes congenital malformation, growth retardation, and developmental delay.(31) A similar syndrome associated with additional finding of upper limb deficiency was described earlier by Brachmann in 1916.(32) Around 87 per cent of the affected subjects have an IQ below 60 (IQ ranges between 30 and 86 with an average of 53) and the quoted prevalence of this condition varies widely between 1 per 100 000 and 1 per 50 000 general population. Although exact mode of inheritance is unknown, autosomal dominant transmission is suspected. Most cases are single sporadic occurrences within the families. Although precise genetic abnormality for this condition has not been detected, there remains the possibility of more than one aetiology. Phenotypical similarities between duplication 3q (26-27) syndrome and de Lange syndrome have been described.

Clinical features

Many children are diagnosed at birth or within a few days of birth. They show characteristic features of hypertricosis (hirsutism, synophrys, long eyelashes), facial abnormalities including depressed nasal bridge, ocular anomalies, prominent philtrum, thin lips, anteverted nostrils, a down-turned angle of mouth, bluish tinge around eyes, nose and/or mouth, widely spaced teeth, high arched palate, low set ears, micrognathia, and short neck. Limb deformities include grossly malformed upper limbs, small hands and feet with short digits, limitation of extension of elbows, proximally placed thumbs, clinodactyly of fifth finger, a single transverse palmar crease (in about 51 per cent of cases), and webbing of second and third toes. Other anomalies include cryptorchidism and hypoplastic genitalia in males (57 per cent of cases), a small umbilicus (53 per cent of cases), a low-pitched cry, and small nipples (55 per cent of cases). (33) Systemic abnormalities include severe gastrointestinal problems such as pyloric stenosis, severe gastrointestinal reflux, or malrotation of the bowel, intestinal obstruction, and congenital heart disease. In some cases eye problems such as myopia, ptosis, and nystagmus, severe hearing loss due to a stenotic external auditory canal, skin problems, and epileptic seizures have been reported.(34,)

Behavioural symptoms

Language deficit affects expressive speech more than comprehension in children with de Lange syndrome. A reported behavioural phenotype associated with this condition consists of feeding difficulty in infancy and childhood, sleep disturbance, self-injurious behaviour, temper tantrums, cyclic mood change, and some autistic features, the degree of which seems to be related to the degree of cognitive disability. Other commonly described behaviours include diminished ability to relate socially, repetitive and stereotyped behaviour, infrequent facial expression of emotion, preference for rigid routine and rigid thinking, ritualistic obsession, and hyperactivity. As they grow old, affected subjects tend to show aggressive outbursts and self-injurious behaviour.

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