Microtriplication 11q24.1

Also known as: Tetrasomy 11q24.1

Definition

Orphanet

Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.

Go To Source: Orphanet

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).
Hypercholesterolemia Elevated serum cholesterol, Elevated total cholesterol, High cholesterol, Increased total cholesterol [more] An increased concentration of cholesterol in the blood.
Smooth philtrum Decreased depth of philtrum, Flat philtrum, Simple philtrum, Shallow philtrum, Indistinct philtrum [more] Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Keratoconus Conical cornea, Bulging cornea A cone-shaped deformity of the cornea.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Overweight Increased body weight with a body mass index of 25-29.9 kg per square meter.
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.
Synophrys Unibrow, Synophris, Monobrow [more] Meeting of the medial eyebrows in the midline.
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.
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.

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