7p22.1 microduplication syndrome

Also known as: Dup(7)(p22.1), Trisomy 7p22.1

Definition

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7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.

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Symptoms

Medical Term Other Names Description
Macrocephaly Big skull, Increased size of head, Large head, Increased size of skull, Large head circumference, Big head, Large calvaria, Increased size of cranium, Large skull, Big cranium, Large cranium, Big calvaria, Macrocrania, Megacephaly [more] Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Atrial septal defect Atrial septum defect, Atria septal defect, Defect in the atrial septum, ASD [more] Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
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).
Low-set ears Melotia, Lowset ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Abnormal cardiac septum morphology Septal defects, Heart septal defect, Abnormality of the cardiac septa [more] An anomaly of the intra-atrial or intraventricular septum.
Anteverted nares Upturned nasal tip, Upturned nostrils, Upturned nares, Anteverted nose, Upturned nose, Nostrils anteverted [more] Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Frontal bossing Skull bossing, Frontal protruberance Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Microretrognathia Retromicrognathia A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Patent foramen ovale Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Delayed speech and language development Poor speech acquisition, Deficiency of speech development, Impaired speech development, Speech and language difficulties, Language delayed, Language development deficit, Impaired speech and language development, Delayed speech development, Speech delay, Language delay, Speech difficulties, Delayed speech, Delayed speech acquisition, Late-onset speech development, Speech and language delay, Delayed language development [more] A degree of language development that is significantly below the norm for a child of a specified age.
Upper limb undergrowth Hypoplasia involving bones of the upper limbs, Shortening of the arms, Short arms [more] Arm shortening because of underdevelopment of one or more bones of the upper extremity.
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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