Clinical Characteristics

What characteristics do patients with a change in the CLTC gene have in common?
Children with autosomal dominant mental retardation-56 manifest a psychomotor development delay (a child’s delay in the acquisition of abilities such as walking or speaking), later resulting in intellectual disability (characterized by significant limitations in both intellectual functioning and in adaptive behavior).

Children may have recognizable facial characteristics, although many times subtle, that are commonly seen in other children with a change in the CLTC gene. These facial signs include a long face, a high narrow forehead, wide-set and long palpebral fissures, large protruding and/or low-set ears, a wide mouth with thick lower lip and large upper central teeth. A mild facial asymmetry may be rarely seen.

What other health implications may be associated with a CLTC gene change?
Children may have anomalies, most commonly in the brain, which may be detected at birth or during childhood. These are sometimes associated with a small head circumference (microcephaly).

Behavioral problems are also frequent, in particular attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder.

Some children develop epilepsy, which is usually well controlled with antiepileptic drugs.

Children may also have ophthalmologic abnormalities and/or gastrointestinal abnormalities, such as feeding problems, constipation and/or gastroesophageal reflux.

What does a CLTC gene change mean for the future of my child?
Most children start walking independently and acquire speech later than usual.

The degree of intellectual disability may range from mild to moderate and this may interfere with the capacity of a child to become fully autonomous as adult.