2q23.1 microduplication syndrome

Also known as: Dup(2)(q23.1), Trisomy 2q23.1

Definition

Orphanet

2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.

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Symptoms

Medical Term Other Names Description
Wide mouth Macrostomia, Large mouth, Broad mouth, Large oral aperture [more] Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Abnormality of digit Abnormality of fingers or toes, Digital anomalies A morphological abnormality of a digit, i.e., of a finger or toe.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Finger clinodactyly Curvature of finger
Clinodactyly of the 5th finger Clinodactyly of fifth digit, Clinodactyly of the little finger, Curvature of little finger, Curvature of pinkie finger, Bilateral fifth digit clinodactyly, Fifth finger clinodactyly, Curvature of pinky finger, Bilateral fifth finger clinodactyly [more] Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Clinodactyly Curvature of digit An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Highly arched eyebrow Thick, flared eyebrows, Bowed and upward slanting eyebrows, High arched eyebrows, Arched eyebrows, High, rounded eyebrows, Broad, arched eyebrows [more] Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Microretrognathia Retromicrognathia A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Bilateral ptosis Drooping of both upper eyelids
Ptosis Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [more] The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
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.
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.

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