7q11.23 microduplication syndrome

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(42.6%)		 19249392
 Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destree A, Maystadt I, Mannik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF.
Eur J Med Genet. 2009;52(2-3):94-100.
Short philtrum Hernia
Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 7 Face Females Homo sapiens Infant Intellectual Disability Male Phenotype Speech Disorders Syndrome Williams Syndrome
2
(21.2%)		 27615053
 Phenotype of 7q11.23 duplication: A family clinical series.
Earhart BA, Williams ME, Zamora I, Randolph LM, Votava-Smith JK, Marcy SN.
Am J Med Genet A. 2017;173(1):114-119.
Hydrocephalus Bone fracture
Abnormal Karyotype Adult Biological Markers Child Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 7 Diagnostic Imaging Electroencephalography Females Genetic Association Studies Homo sapiens Infant Male Phenotype Young Adult
3
(4.0%)		 25428557
 Aortopathy in the 7q11.23 microduplication syndrome.
Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM.
Am J Med Genet A. 2015;167A(2):363-70.
Patent ductus arteriosus
ELN
Adult Aorta Child Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 7 Females Homo sapiens Infant Male Phenotype Syndrome Ultrasonography Young Adult
3
(4.0%)		 17666889
 Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW.
Genet Med. 2007;9(7):427-41.
Behavioral abnormality
Adult Autistic Disorder Child Child Behavior Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 7 Females Homo sapiens Language Development Disorders Male Oligonucleotide Array Sequence Analysis Quantitative Trait Loci Social Behavior Williams Syndrome
3
(4.0%)		 17075606
 Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.
Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O.
Eur J Hum Genet. 2007;15(1):62-7.
Cortical dysplasia
Chromosomes, Human, Pair 7 Females Gene Duplication Homo sapiens Language Development Disorders Magnetic Resonance Imaging Temporal Lobe Williams Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 95

HPO ID Term Frequency
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0000218 High palate Frequent (79-30%)
HP:0000219 Thin upper lip vermilion Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000363 Abnormality of earlobe Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000455 Broad nasal tip Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000527 Long eyelashes Frequent (79-30%)
HP:0000689 Dental malocclusion Frequent (79-30%)
HP:0000699 Diastema Frequent (79-30%)
HP:0000739 Anxiety Frequent (79-30%)
HP:0000752 Hyperactivity Frequent (79-30%)
HP:0000776 Congenital diaphragmatic hernia Frequent (79-30%)
HP:0000954 Single transverse palmar crease Frequent (79-30%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0001270 Motor delay Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001310 Dysmetria Frequent (79-30%)
HP:0001321 Cerebellar hypoplasia Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0001724 obsolete Aortic dilatation Frequent (79-30%)
HP:0001999 Abnormal facial shape Frequent (79-30%)
HP:0002011 Morphological abnormality of the central nervous system Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002317 Unsteady gait Frequent (79-30%)
HP:0002342 Intellectual disability, moderate Frequent (79-30%)
HP:0009879 Simplified gyral pattern Frequent (79-30%)
HP:0009929 Abnormality of the columella Frequent (79-30%)
HP:0012450 Chronic constipation Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000200 Short lingual frenulum Occasional (29-5%)
HP:0000233 Thin vermilion border Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000348 High forehead Occasional (29-5%)
HP:0000389 Chronic otitis media Occasional (29-5%)
HP:0000396 Overfolded helix Occasional (29-5%)
HP:0000565 Esotropia Occasional (29-5%)
HP:0000718 Aggressive behavior Occasional (29-5%)
HP:0000733 Stereotypy Occasional (29-5%)
HP:0000735 Impaired social interactions Occasional (29-5%)
HP:0000753 Autism with high cognitive abilities Occasional (29-5%)
HP:0000965 Cutis marmorata Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001382 Joint hypermobility Occasional (29-5%)
HP:0001510 Growth delay Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002300 Mutism Occasional (29-5%)
HP:0002307 Drooling Occasional (29-5%)
HP:0002360 Sleep disturbance Occasional (29-5%)
HP:0002591 Polyphagia Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0004768 Sparse anterior scalp hair Occasional (29-5%)
HP:0009748 Large earlobe Occasional (29-5%)
HP:0010794 Impaired visuospatial constructive cognition Occasional (29-5%)
HP:0010864 Intellectual disability, severe Occasional (29-5%)
HP:0011228 Horizontal eyebrow Occasional (29-5%)
HP:0011333 Asymmetric crying face Occasional (29-5%)
HP:0000047 Hypospadias Very rare (4-1%)
HP:0000122 Unilateral renal agenesis Very rare (4-1%)
HP:0000126 Hydronephrosis Very rare (4-1%)
HP:0000238 Hydrocephalus Very rare (4-1%)
HP:0000311 Round face Very rare (4-1%)
HP:0000365 Hearing impairment Very rare (4-1%)
HP:0000470 Short neck Very rare (4-1%)
HP:0000483 Astigmatism Very rare (4-1%)
HP:0000486 Strabismus Very rare (4-1%)
HP:0000577 Exotropia Very rare (4-1%)
HP:0000767 Pectus excavatum Very rare (4-1%)
HP:0000805 Enuresis Very rare (4-1%)
HP:0000957 Cafe-au-lait spot Very rare (4-1%)
HP:0000960 Sacral dimple Very rare (4-1%)
HP:0001629 Ventricular septal defect Very rare (4-1%)
HP:0001631 Atrial septal defect Very rare (4-1%)
HP:0001650 Aortic valve stenosis Very rare (4-1%)
HP:0001763 Pes planus Very rare (4-1%)
HP:0002779 Tracheomalacia Very rare (4-1%)
HP:0002937 Hemivertebrae Very rare (4-1%)
HP:0002967 Cubitus valgus Very rare (4-1%)
HP:0007772 Impaired smooth pursuit Very rare (4-1%)
HP:0008655 Aplasia/Hypoplasia of the fallopian tube Very rare (4-1%)
HP:0008684 Aplasia/hypoplasia of the uterus Very rare (4-1%)
HP:0012795 Abnormality of the optic disc Very rare (4-1%)
HP:0030212 Collectionism Very rare (4-1%)
HP:0045025 Narrow palpebral fissure Very rare (4-1%)
HP:0100716 Self-injurious behavior Very rare (4-1%)
HP:0100807 Long fingers Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000708 Behavioral abnormality 1
HP:0000717 Autism 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID