Baraitser-Winter cerebrofrontofacial syndrome

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.



Input patient's signs and symptoms


Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 26188271
 Rare ACTG1 variants in fetal microlissencephaly.
Poirier K, Martinovic J, Laquerriere A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N.
Eur J Med Genet. 2015;58(8):416-8.
Microcephaly
rs1555666392 rs1555667243 rs781953399
Abortion, Eugenic Actins Child Craniofacial Abnormalities Exome Exons Females Fetus Gene Expression Heterozygote High-Throughput Nucleotide Sequencing Homo sapiens Introns Male Microcephaly Missense Mutation
2
(4.0%)		 29372643
 Child with cerebral malformations and epilepsy.
Sun Y, Shen X, Li Q, Kong Q.
Int J Neurosci. 2018;128(9):881-885.
Hypertelorism
ACTB
c|SUB|A|484|G p|SUB|T|162|A
Actins Child DNA Mutational Analysis Electroencephalography Epilepsy Homo sapiens Magnetic Resonance Imaging Models, Molecular
2
(4.0%)		 28487785
(5405358)
 Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P.
Case Rep Genet. 2017;2017:9184265.
Dystonia
p|SUB|R|183|W;RS#:104894003
2
(4.0%)		 28413780
(5385583)
 Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome.
Climans SA, Mirsattari SM.
Epilepsy Behav Case Rep. 2017;7:58-60.
Hypertelorism
2
(4.0%)		 27868373
 Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
Cianci P, Fazio G, Casagranda S, Spinelli M, Rizzari C, Cazzaniga G, Selicorni A.
Am J Med Genet A. 2017;173(2):546-549.
Coloboma
ACTB ACTG1
rs104894003 rs1554329078 rs1554329317 rs1554329352 rs1554329552 rs769182426 rs797044950 rs886039472
Antineoplastic Combined Chemotherapy Protocols Bone Marrow Examination Brain Craniofacial Abnormalities Electrocardiography Epilepsy Facies Females Homo sapiens Intellectual Disability Leukemia, Myelocytic, Acute Lissencephaly Magnetic Resonance Imaging Mutation Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 63

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000307 Pointed chin Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000437 Depressed nasal tip Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000612 Iris coloboma Very frequent (99-80%)
HP:0000637 Long palpebral fissure Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001302 Pachygyria Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0001339 Lissencephaly Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0002000 Short columella Very frequent (99-80%)
HP:0002126 Polymicrogyria Very frequent (99-80%)
HP:0002300 Mutism Very frequent (99-80%)
HP:0002357 Dysphasia Very frequent (99-80%)
HP:0002381 Aphasia Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0005487 Prominent metopic ridge Very frequent (99-80%)
HP:0007227 Macrogyria Very frequent (99-80%)
HP:0010529 Echolalia Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0012905 Euryblepharon Very frequent (99-80%)
HP:0040188 Osteochondrosis Very frequent (99-80%)
HP:0000072 Hydroureter Frequent (79-30%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000239 Large fontanelles Frequent (79-30%)
HP:0000243 Trigonocephaly Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000270 Delayed cranial suture closure Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0001100 Heterochromia iridis Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0003189 Long nose Frequent (79-30%)
HP:0010935 Abnormality of the upper urinary tract Frequent (79-30%)
HP:0012157 Subcortical cerebral atrophy Frequent (79-30%)
HP:0030502 Retinoschisis Frequent (79-30%)
HP:0100308 Cerebral cortical hemiatrophy Frequent (79-30%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000482 Microcornea Occasional (29-5%)
HP:0000588 Optic nerve coloboma Occasional (29-5%)
HP:0002326 Transient ischemic attack Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0009942 Duplication of thumb phalanx Occasional (29-5%)
HP:0100540 Palpebral edema Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000589 Coloboma 1
HP:0001249 Intellectual disability 1
HP:0001302 Pachygyria 1
HP:0004322 Short stature 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
ACTB actin beta 60
ACTG1 actin gamma 1 71