10q22.3q23.3 microdeletion syndrome

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002463 Language impairment Very frequent (99-80%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000308 Microretrognathia Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0000601 Hypotelorism Occasional (29-5%)
HP:0000717 Autism Occasional (29-5%)
HP:0001166 Arachnodactyly Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001321 Cerebellar hypoplasia Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001704 Tricuspid valve prolapse Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002308 Arnold-Chiari malformation Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0006695 Atrioventricular canal defect Occasional (29-5%)
HP:0007018 Attention deficit hyperactivity disorder Occasional (29-5%)
HP:0100444 Curved middle phalanx of the 4th toe Occasional (29-5%)
HP:0100783 Breast aplasia Occasional (29-5%)
HP:0200008 Intestinal polyposis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID