Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney <i>etc.</i>).



Input patient's signs and symptoms


Narrow down the case reports



Total: 177 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(79.8%)		 31214369
 A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis.
Kinjo T, Mekaru K, Nakada M, Nitta H, Masamoto H, Aoki Y.
Case Rep Obstet Gynecol. 2019;2019:4530491.
Long philtrum Synophrys Short forearm
2
(74.9%)		 21165303
(2995242)
 Cornelia de Lange Syndrome with NIPBL gene mutation: a case report.
Park KH, Lee ST, Ki CS, Byun SY.
J Korean Med Sci. 2010;25(12):1821-3.
Long philtrum Micrognathia Micromelia Curly eyelashes
NIPBL
Cell Cycle Proteins Codon, Nonsense Codon, Terminator Cornelia De Lange Syndrome Heterozygote Homo sapiens Infant, Newborn Male Proteins Sequence Analysis, DNA Ultrasonography X-Ray Computed Tomography
3
(71.4%)		 15549153
 Partial duplication of 3q and distal deletion of 10q inherited from a maternal balanced translocation.
Su PH, Chen JY, Chen SJ, Hung HM.
J Formos Med Assoc. 2004;103(11):853-7.
Long philtrum Micrognathia Synophrys Phocomelia
Adult Chromosome Deletion Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 3 Females Homo sapiens Infant Male
4
(69.4%)		 26834972
(4706058)
 Case Report: Atypical Cornelia de Lange Syndrome.
Leanza V, Rubbino G, Leanza G.
F1000Res. 2014;3:33.
Long philtrum Micrognathia Synophrys
5
(66.6%)		 10756338
 Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?
Mau UA, Backsch C, Schaudt H, Trefz FK, Kaiser P.
Am J Med Genet. 2000;91(3):180-4.
Synophrys Small hand
Child, Preschool Chromosome Banding Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 8 Cornelia De Lange Syndrome Females Homo sapiens Intellectual Disability Monosomy Trisomy
6
(66.3%)		 10584631
 Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay.
Boog G, Sagot F, Winer N, David A, Nomballais MF.
Eur J Obstet Gynecol Reprod Biol. 1999;85(2):173-7.
Long philtrum Micrognathia
Adult Cornelia De Lange Syndrome Craniofacial Abnormalities Females Fetal Growth Retardation Gestational Age Growth Disorders Hirsutism Homo sapiens Intellectual Disability Limb Deformities, Congenital Male Pregnancy Ultrasonography, Prenatal
7
(65.5%)		 2865886
 [A case of Cornelia de Lange syndrome with retentio testis].
Satomi S, Terada T, Katayama T.
Hinyokika Kiyo. 1985;31(7):1203-10.
Long eyelashes Micromelia
Brain Child Cornelia De Lange Syndrome Cryptorchidism Homo sapiens Male Urography X-Ray Computed Tomography
8
(63.5%)		 29764576
 [NIPBL gene mutations in two children with Cornelia de Lange syndrome].
Zhao YJ, Ma HW.
Zhongguo Dang Dai Er Ke Za Zhi. 2018;20(5):387-391.
Micrognathia Short nose Curly eyelashes
ANKRD11 EP300 HDAC8 NIPBL RAD21 SMC1A SMC3
c|DUP|7834|A| c|SUB|C|505|T p|FS|R|2612||20 p|SUB|Q|169|X
Cell Cycle Proteins Cornelia De Lange Syndrome Females High-Throughput Nucleotide Sequencing Homo sapiens Infant Male Mutation Proteins
9
(62.2%)		 23091754
(3472535)
 Three-dimensional ultrasound findings in cornelia de lange syndrome: a case report.
Akahori Y, Masuyama H, Masumoto Y, Hiramatsu Y.
Case Rep Obstet Gynecol. 2012;2012:568351.
Micrognathia Abnormality of finger Abnormality of the forearm
10
(62.1%)		 15793836
 A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
Ounap K, Ilus T, Bartsch O.
Am J Med Genet A. 2005;134(4):434-8.
Full cheeks Micrognathia Thick eyebrow
Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 3 Congenital Heart Defects Face Fatal Outcome Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Limb Deformities, Congenital Syndrome Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 100

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000294 Low anterior hairline Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000527 Long eyelashes Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0000684 Delayed eruption of teeth Very frequent (99-80%)
HP:0000687 Widely spaced teeth Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0002020 Gastroesophageal reflux Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0007665 Curly eyelashes Very frequent (99-80%)
HP:0009623 Proximal placement of thumb Very frequent (99-80%)
HP:0010034 Short 1st metacarpal Very frequent (99-80%)
HP:0010300 Abnormally low-pitched voice Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000003 Multicystic kidney dysplasia Frequent (79-30%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000059 Hypoplastic labia majora Frequent (79-30%)
HP:0000076 Vesicoureteral reflux Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000482 Microcornea Frequent (79-30%)
HP:0000498 Blepharitis Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000667 Phthisis bulbi Frequent (79-30%)
HP:0000722 Obsessive-compulsive behavior Frequent (79-30%)
HP:0000739 Anxiety Frequent (79-30%)
HP:0000965 Cutis marmorata Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001622 Premature birth Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0002360 Sleep disturbance Frequent (79-30%)
HP:0002557 Hypoplastic nipples Frequent (79-30%)
HP:0002974 Radioulnar synostosis Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0008850 Severe postnatal growth retardation Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000130 Abnormality of the uterus Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000400 Macrotia Occasional (29-5%)
HP:0000453 Choanal atresia Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000717 Autism Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0000786 Primary amenorrhea Occasional (29-5%)
HP:0000823 Delayed puberty Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001385 Hip dysplasia Occasional (29-5%)
HP:0001557 Prenatal movement abnormality Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0001956 Truncal obesity Occasional (29-5%)
HP:0002021 Pyloric stenosis Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002120 Cerebral cortical atrophy Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)
HP:0002580 Volvulus Occasional (29-5%)
HP:0002827 Hip dislocation Occasional (29-5%)
HP:0002997 Abnormality of the ulna Occasional (29-5%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)
HP:0010880 Increased nuchal translucency Occasional (29-5%)
HP:0012165 Oligodactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 88

HPO ID Term # of case reports
HP:0001007 Hirsutism 16
HP:0001249 Intellectual disability 9
HP:0000664 Synophrys 8
HP:0000347 Micrognathia 6
HP:0004322 Short stature 5
HP:0000252 Microcephaly 4
HP:0002983 Micromelia 4
HP:0000369 Low-set ears 3
HP:0000998 Hypertrichosis 3
HP:0001511 Intrauterine growth retardation 3
HP:0002020 Gastroesophageal reflux 3
HP:0002580 Volvulus 3
HP:0011968 Feeding difficulties 3
HP:0100543 Cognitive impairment 3
HP:0100790 Hernia 3
HP:0000278 Retrognathia 2
HP:0000343 Long philtrum 2
HP:0000508 Ptosis 2
HP:0000527 Long eyelashes 2
HP:0001159 Syndactyly 2
HP:0001250 Seizures 2
HP:0001508 Failure to thrive 2
HP:0001839 Split foot 2
HP:0008897 Postnatal growth retardation 2
HP:0009829 Phocomelia 2
HP:0010880 Increased nuchal translucency 2
HP:0012165 Oligodactyly 2
HP:0025356 Psychomotor retardation 2
HP:0100620 Germinoma 2
HP:0100880 Nephrogenic rest 2
HP:0000047 Hypospadias 1
HP:0000076 Vesicoureteral reflux 1
HP:0000248 Brachycephaly 1
HP:0000293 Full cheeks 1
HP:0000358 Posteriorly rotated ears 1
HP:0000365 Hearing impairment 1
HP:0000463 Anteverted nares 1
HP:0000470 Short neck 1
HP:0000486 Strabismus 1
HP:0000491 Keratitis 1
HP:0000501 Glaucoma 1
HP:0000526 Aniridia 1
HP:0000545 Myopia 1
HP:0000555 Leukocoria 1
HP:0000574 Thick eyebrow 1
HP:0000579 Nasolacrimal duct obstruction 1
HP:0000621 Entropion 1
HP:0000717 Autism 1
HP:0000718 Aggressive behavior 1
HP:0001171 Split hand 1
HP:0001263 Global developmental delay 1
HP:0001298 Encephalopathy 1
HP:0001332 Dystonia 1
HP:0001510 Growth delay 1
HP:0001513 Obesity 1
HP:0001601 Laryngomalacia 1
HP:0001647 Bicuspid aortic valve 1
HP:0001746 Asplenia 1
HP:0001840 Metatarsus adductus 1
HP:0001903 Anemia 1
HP:0002027 Abdominal pain 1
HP:0002104 Apnea 1
HP:0002230 Generalized hirsutism 1
HP:0002361 Psychomotor deterioration 1
HP:0002445 Tetraplegia 1
HP:0002595 Ileus 1
HP:0002652 Skeletal dysplasia 1
HP:0002835 Aspiration 1
HP:0002878 Respiratory failure 1
HP:0003995 Abnormality of the radial head 1
HP:0005280 Depressed nasal bridge 1
HP:0005912 Biliary atresia 1
HP:0007560 Unusual dermatoglyphics 1
HP:0007665 Curly eyelashes 1
HP:0008191 Thyroid agenesis 1
HP:0008846 Severe intrauterine growth retardation 1
HP:0009926 Epiphora 1
HP:0010570 Low maternal serum alpha-fetoprotein 1
HP:0011003 High myopia 1
HP:0011682 Perimembranous ventricular septal defect 1
HP:0011951 Aspiration pneumonia 1
HP:0030084 Clinodactyly 1
HP:0031273 Shock 1
HP:0031864 Bacteremia 1
HP:0040064 Abnormality of limbs 1
HP:0040075 Hypopituitarism 1
HP:0100687 Polyotia 1
HP:0410030 Cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 7

Gene Symbol Gene Name Entrez Gene ID
SMC1A structural maintenance of chromosomes 1A 8243
NIPBL NIPBL cohesin loading factor 25836
SMC3 structural maintenance of chromosomes 3 9126
HDAC8 histone deacetylase 8 55869
RAD21 RAD21 cohesin complex component 5885
KMT2A lysine methyltransferase 2A 4297
SETD5 SET domain containing 5 55209