8q21.11 microdeletion syndrome

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(26.3%)		 25898976
 Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.
Quintela I, Barros F, Castro-Gago M, Carracedo A, Eiris J.
Am J Med Genet A. 2015;167(6):1369-73.
Round face
Child Chromosomes, Human, Pair 8 DNA Copy Number Variations Facies Heterozygote Homo sapiens Intellectual Disability Male Monosomy Oligonucleotide Array Sequence Analysis Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002263 Exaggerated cupid's bow Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000647 Sclerocornea Frequent (79-30%)
HP:0001611 Nasal speech Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0010489 Absent palmar crease Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000164 Abnormality of the dentition Occasional (29-5%)
HP:0000218 High palate Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000964 Eczema Occasional (29-5%)
HP:0001163 Abnormality of the metacarpal bones Occasional (29-5%)
HP:0004408 Abnormality of the sense of smell Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0007730 Iris hypopigmentation Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001249 Intellectual disability 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID