Emanuel syndrome

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.



Input patient's signs and symptoms


Narrow down the case reports



Total: 18 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(58.9%)		 22876593
 Emanuel syndrome due to unusual segregation of paternal origin.
Zaki MS, Mohamed AM, Kamel AK, El-Gerzawy AM, El-Ruby MO.
Genet Couns. 2012;23(2):319-28.
Microcephaly Micrognathia Arachnodactyly
Adult Child Chromosome Aberrations Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 22 Cleft Palate Congenital Heart Defects Females Homo sapiens Intellectual Disability Male
2
(57.8%)		 30980693
 Oral and dental findings in emanuel syndrome.
Puranik CP, Katechia B.
Int J Paediatr Dent. 2019;29(5):677-682.
Microcephaly Micrognathia
Cleft Palate Congenital Heart Defects Homo sapiens Intellectual Disability Male
2
(57.8%)		 29666339
 Phenotypic characterization of derivative 22 syndrome: case series and review.
Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR.
J Genet. 2018;97(1):205-211.
Microcephaly Micrognathia
Child Chromosomes, Human, Pair 22 Cleft Palate Congenital Heart Defects Females Homo sapiens Infant Intellectual Disability Male Phenotype
2
(57.8%)		 27973931
 Anesthetic Management of a Patient With Emanuel Syndrome.
Tsukamoto M, Hitosugi T, Esaki K, Yokoyama T.
Anesth Prog. 2016;63(4):201-203.
Micrognathia
Child, Preschool Cleft Palate Congenital Heart Defects Homo sapiens Intellectual Disability Male Palate
2
(57.8%)		 26076791
 Emanuel Syndrome (ES): new case-report and review of the literature.
Jancevska S, Kitanovski M, Laban N, Danilovski D, Tasic V, Gucev ZS.
Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):205-8.
Microcephaly Micrognathia
Child, Preschool Chromosomes, Human, Pair 22 Cleft Palate Congenital Heart Defects Craniofacial Abnormalities Developmental Disabilities Homo sapiens Intellectual Disability Male Seizures
2
(57.8%)		 25603733
 Anesthetic management of pediatric patients with Emanuel syndrome.
Nishinarita R, Mihara T, Nakamura N, Miyamoto Y, Ka K.
J Anesth. 2015;29(3):450-452.
Micrognathia
Anesthetics Child, Preschool Cleft Palate Congenital Heart Defects Females Homo sapiens Infant Intellectual Disability Intubation, Intratracheal Male
7
(42.7%)		 23528375
 Lipodermoid in a patient with Emanuel syndrome.
Glaser TS, Rauen KA, Jeng LJ, de Alba Campomanes AG.
J AAPOS. 2013;17(2):211-3.
Retrognathia
Cleft Palate Congenital Heart Defects Conjunctival Neoplasms Dermoid Cyst Goldenhar Syndrome Homo sapiens Infant Intellectual Disability Lipoma Male Phenotype
8
(39.0%)		 28981939
 [Genetic diagnosis and follow up of a fetus with Emanuel syndrome].
Zhao Y, Pang H, Gao M, Feng X, Guan Y, Zhao H, Tong D, Hua J, Cao X, He S, Li-Ling J.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34(5):709-713.
Dandy-Walker malformation
Adult Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 22 Cleft Palate Congenital Heart Defects Females Follow-Up Studies Homo sapiens Intellectual Disability Pregnancy
8
(39.0%)		 28075445
 A clinical and molecular analysis of a patient with Emanuel syndrome.
Luo JW, Yang H, Tan ZP, Tu M, Luo H, Yang YF, Xie L.
Mol Med Rep. 2017;15(3):1348-1352.
Microcephaly
Adult Child, Preschool Cleft Palate Congenital Heart Defects Females Genetic Association Studies Homo sapiens Intellectual Disability Male Phenotype Single Nucleotide Polymorphism
8
(39.0%)		 23691404
(3652044)
 Derivative 11;22 (emanuel) syndrome: a case report and a review.
Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS.
Case Rep Pediatr. 2013;2013:237935.
Microcephaly
        

Phenotype(s) retrieved from Orphanet

    Total: 80

HPO ID Term Frequency
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000054 Micropenis Frequent (79-30%)
HP:0000135 Hypogonadism Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000384 Preauricular skin tag Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000403 Recurrent otitis media Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000678 Dental crowding Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0000692 Misalignment of teeth Frequent (79-30%)
HP:0000750 Delayed speech and language development Frequent (79-30%)
HP:0000789 Infertility Frequent (79-30%)
HP:0001195 Single umbilical artery Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001374 Congenital hip dislocation Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0001642 Pulmonic stenosis Frequent (79-30%)
HP:0001650 Aortic valve stenosis Frequent (79-30%)
HP:0001660 Truncus arteriosus Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002019 Constipation Frequent (79-30%)
HP:0002020 Gastroesophageal reflux Frequent (79-30%)
HP:0002059 Cerebral atrophy Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0002562 Low-set nipples Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002719 Recurrent infections Frequent (79-30%)
HP:0002751 Kyphoscoliosis Frequent (79-30%)
HP:0004397 Ectopic anus Frequent (79-30%)
HP:0004467 Preauricular pit Frequent (79-30%)
HP:0005815 Supernumerary ribs Frequent (79-30%)
HP:0009765 Low hanging columella Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0012802 Broad jaw Frequent (79-30%)
HP:0030820 Hooded eyelid Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000089 Renal hypoplasia Occasional (29-5%)
HP:0000122 Unilateral renal agenesis Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000193 Bifid uvula Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000483 Astigmatism Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000540 Hypermetropia Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001305 Dandy-Walker malformation Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0001558 Decreased fetal movement Occasional (29-5%)
HP:0001562 Oligohydramnios Occasional (29-5%)
HP:0001622 Premature birth Occasional (29-5%)
HP:0001623 Breech presentation Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002308 Arnold-Chiari malformation Occasional (29-5%)
HP:0002500 Abnormality of the cerebral white matter Occasional (29-5%)
HP:0002828 Multiple joint contractures Occasional (29-5%)
HP:0003028 Abnormality of the ankles Occasional (29-5%)
HP:0005401 Recurrent candida infections Occasional (29-5%)
HP:0005989 Redundant neck skin Occasional (29-5%)
HP:0009101 Submucous cleft lip Occasional (29-5%)
HP:0012714 Severe hearing impairment Occasional (29-5%)
HP:0012735 Cough Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000252 Microcephaly 2
HP:0000347 Micrognathia 2
HP:0001249 Intellectual disability 1
HP:0001250 Seizures 1
HP:0001305 Dandy-Walker malformation 1
HP:0001508 Failure to thrive 1
HP:0002948 Vertebral fusion 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID