Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Also known as: Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome



Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.

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Medical Term Other Names Description
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Prominent antihelix The presence of an abnormally prominent antihelix.
Truncal ataxia Trunk ataxia Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Prominent nose Disproportionately large nose, Nasal hyperplasia, Pronounced nose, Large nose, Nasal hypertrophy, Hypertrophy of nose, Increased size of nose, Increased nasal size, Hyperplasia of nose, Big nose [more] Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Upslanted palpebral fissure Mongoloid slant, Upward slanting palpebral fissures, Upslanting palpebral fissures, Upward slanting of the opening between the eyelids, Upward slanted palpebral fissures [more] The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Macrotia Large pinnae, Large ears Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Bradycardia Brachycardia, Slow heartbeats A slower than normal heart rate (in adults, slower than 60 beats per minute).
Long philtrum Elongated philtrum, Vertical hyperplasia of philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum [more] Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Cortical gyral simplification Simplified gyral pattern An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex.
Broad forehead Increased bitemporal width, Increased bitemporal dimension, Wide forehead, Increased width of the forehead, Intertemporal widening, Bitemporal widening [more] Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Cerebellar hypoplasia Hypoplastic cerebellum, Underdeveloped cerebellum, Small cerebellum, Congenital cerebellar hypoplasia [more] Underdevelopment of the cerebellum.
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Thin upper lip vermilion Thin vermilion border of upper lip, Thin upper lips, Thin red part of the upper lip, Decreased volume of upper lip vermilion, Decreased volume of upper lip, Decreased height of upper lip vermilion [more] Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Clinodactyly Curvature of digit An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Thin eyebrow Decreased diameter of eyebrow hairs.
Heart block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
Brisk reflexes
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Autistic behavior Autistic behaviour, Pervasive developmental disorder, Autism spectrum disorder, Autism spectrum disorders [more] A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Thick lower lip vermilion Thick red part of the lower lip, Thick lower lip, Increased volume of lower lip, Prominent lower lip vermilion, Full lower lip, Plump lower lip, Prominent lower lip, Increased height of lower lip vermilion, Thick vermilion border of lower lip, Full lower lip vermilion, Increased volume of lower lip vermilion [more] Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).

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