Bohring-Opitz syndrome

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.



Input patient's signs and symptoms


Narrow down the case reports



Total: 13 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
8
(4.0%)		 28229513
(5487276)
 Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP, , Tvrdik T, MacArthur DG, Mao R.
Hum Mutat. 2017;38(5):517-523.
Seizure
ASXL1
Aged, 80 and over Alleles Amino Acid Substitution Child, Preschool Craniosynostosis Databases, Genetic Facies Females Genetic Association Studies Germ-Line Mutation Homo sapiens Infant Intellectual Disability Male Middle Aged Mutation Phenotype Repressor Proteins
8
(4.0%)		 26364555
 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K.
Am J Med Genet A. 2015;167A(12):3161-6.
Hypertelorism
ASXL1 CFTR
rs1427299519 rs144476686 rs1555911515 rs1555912285 rs1555912296 rs1555912419 rs1555912897 rs754129466 rs777537805
Adult Craniosynostosis Exome Females High-Throughput Nucleotide Sequencing Homo sapiens Intellectual Disability Repressor Proteins
8
(4.0%)		 22419483
 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.
Am J Med Genet A. 2012;158A(4):917-21.
Intellectual disability
ASXL1
c|DEL|2407_2411|5 c|SUB|C|2893|T;RS#:397515401 p|FS|Q|803|T|17 p|SUB|R|965|X;RS#:397515401 rs1427299519 rs1555911515 rs1555912285 rs1555912296 rs1555912419 rs1555912897 rs397515401 rs754129466 rs777537805
Child Codon, Nonsense Craniosynostosis Females Homo sapiens Infant Intellectual Disability Male Phenotype Repressor Proteins
        

Phenotype(s) retrieved from Orphanet

    Total: 55

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000243 Trigonocephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000294 Low anterior hairline Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000998 Hypertrichosis Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0004422 Biparietal narrowing Very frequent (99-80%)
HP:0005487 Prominent metopic ridge Very frequent (99-80%)
HP:0007413 Nevus flammeus of the forehead Very frequent (99-80%)
HP:0009465 Ulnar deviation of finger Very frequent (99-80%)
HP:0009891 Underdeveloped supraorbital ridges Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0100874 Thick hair Very frequent (99-80%)
HP:0000191 Accessory oral frenulum Frequent (79-30%)
HP:0000204 Cleft upper lip Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000488 Retinopathy Frequent (79-30%)
HP:0000593 Abnormal anterior chamber morphology Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0000774 Narrow chest Frequent (79-30%)
HP:0000926 Platyspondyly Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001522 Death in infancy Frequent (79-30%)
HP:0001732 Abnormality of the pancreas Frequent (79-30%)
HP:0002020 Gastroesophageal reflux Frequent (79-30%)
HP:0002079 Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002558 Supernumerary nipple Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0002566 Intestinal malrotation Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)
HP:0006610 Wide intermamillary distance Frequent (79-30%)
HP:0010306 Short thorax Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000077 Abnormality of the kidney Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0001305 Dandy-Walker malformation Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0001773 Short foot Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 14

HPO ID Term # of case reports
HP:0000316 Hypertelorism 3
HP:0001508 Failure to thrive 3
HP:0001249 Intellectual disability 2
HP:0011968 Feeding difficulties 2
HP:0000243 Trigonocephaly 1
HP:0000252 Microcephaly 1
HP:0000582 Upslanted palpebral fissure 1
HP:0001052 Nevus flammeus 1
HP:0001250 Seizures 1
HP:0001511 Intrauterine growth retardation 1
HP:0001525 Severe failure to thrive 1
HP:0007413 Nevus flammeus of the forehead 1
HP:0011604 Aortopulmonary window 1
HP:0410030 Cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
KLHL7 kelch like family member 7 55975
ASXL1 ASXL transcriptional regulator 1 171023