Blepharophimosis-intellectual disability syndrome, Ohdo type

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.



Input patient's signs and symptoms


Narrow down the case reports



Total: 17 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
7
(30.8%)		 9546834
 Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Rasmussen M, Stromme P.
Clin Dysmorphol. 1998;7(1):61-3.
Ptosis Blepharophimosis
Blepharophimosis Blepharoptosis Child, Preschool External Ear Females Homo sapiens Intellectual Disability Pregnancy Syndrome Tooth Abnormalities
7
(30.8%)		 8055131
 A case with blepharophimosis resembling Ohdo syndrome.
Maat-Kievit JA, Milla PJ, Collins JE, Baraitser M, Winter RM.
Clin Dysmorphol. 1994;3(2):125-7.
Ptosis Blepharophimosis
Blepharophimosis Blepharoptosis Child Deafness Homo sapiens Infant, Newborn Intellectual Disability Male Syndrome Tooth Abnormalities
13
(20.4%)		 15127758
 Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations.
Day R, Fryer A.
Clin Dysmorphol. 2004;13(1):17-9.
Joint laxity
Blepharophimosis Bone and Bones Child, Preschool Face Homo sapiens Infant Intellectual Disability Joint Instability Knee Male Patella Phenotype Syndrome
14
(4.0%)		 28710305
 Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.
Merritt J, Hart JC, LeGrow TL.
BMJ Case Rep. 2017;2017:.
Hearing abnormality
Autism Spectrum Disorders Blepharophimosis Child, Preschool Congenital Heart Defects Congenital Hypothyroidism Differential Diagnosis Facies Homo sapiens Intellectual Disability Joint Instability Male Self-Injurious Behavior
14
(4.0%)		 27696664
 A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
Niida Y, Mitani Y, Kuroda M, Yokoi A, Nakagawa H, Kato A.
Congenit Anom (Kyoto). 2017;57(3):86-88.
Laryngomalacia
KAT6B
Alleles Blepharophimosis Congenital Heart Defects Congenital Hypothyroidism Craniofacial Abnormalities DNA Mutational Analysis Differential Diagnosis Exons Facies Gene Duplication Genetic Association Studies Homo sapiens Infant, Newborn Intellectual Disability Inverted Repeat Sequences Joint Instability Kidney Male Mutation Patella Phenotype Psychomotor Disorders Scrotum Ultrasonography, Prenatal Urogenital Abnormalities
14
(4.0%)		 27500536
 De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F.
Pediatr Res. 2016;80(6):809-815.
Intellectual disability
MED12 MED13L
Amino Acid Substitution Child Codon, Nonsense DNA Mutational Analysis High-Throughput Nucleotide Sequencing Homo sapiens Intellectual Disability Male Mediator Complex Missense Mutation Mutant Proteins Mutation Phenotype Syndrome Young Adult
14
(4.0%)		 9184251
 Ohdo syndrome: report on a Brazilian girl with additional findings.
da Silva Lopes VL, Guion-Almeida ML.
Clin Genet. 1997;51(4):268-70.
Fever
Cleft Palate Females Homo sapiens Infant, Newborn Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000046 Scrotal hypoplasia Very frequent (99-80%)
HP:0000093 Proteinuria Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000356 Abnormality of the outer ear Very frequent (99-80%)
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000403 Recurrent otitis media Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0000646 Amblyopia Very frequent (99-80%)
HP:0000685 Hypoplasia of teeth Very frequent (99-80%)
HP:0000687 Widely spaced teeth Very frequent (99-80%)
HP:0000691 Microdontia Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001018 Abnormal palmar dermatoglyphics Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001270 Motor delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0008897 Postnatal growth retardation Very frequent (99-80%)
HP:0030148 Heart murmur Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0012619 Multiple bladder diverticula Frequent (79-30%)
HP:0012768 Neonatal asphyxia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 13

HPO ID Term # of case reports
HP:0000581 Blepharophimosis 7
HP:0000508 Ptosis 4
HP:0000252 Microcephaly 2
HP:0000821 Hypothyroidism 2
HP:0001249 Intellectual disability 2
HP:0000364 Hearing abnormality 1
HP:0000365 Hearing impairment 1
HP:0000389 Chronic otitis media 1
HP:0000648 Optic atrophy 1
HP:0001388 Joint laxity 1
HP:0009797 Cholesteatoma 1
HP:0011968 Feeding difficulties 1
HP:0100259 Postaxial polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID