Qazi-Markouizos syndrome

A rare disorder characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.



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

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0001216 Delayed ossification of carpal bones Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0008947 Infantile muscular hypotonia Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0012450 Chronic constipation Very frequent (99-80%)
HP:0200000 Dysharmonic bone age Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0001182 Tapered finger Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002719 Recurrent infections Frequent (79-30%)
HP:0000194 Open mouth Occasional (29-5%)
HP:0000289 Broad philtrum Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000426 Prominent nasal bridge Occasional (29-5%)
HP:0000473 Torticollis Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000685 Hypoplasia of teeth Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0001792 Small nail Occasional (29-5%)
HP:0002307 Drooling Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0003270 Abdominal distention Occasional (29-5%)
HP:0007477 Abnormal dermatoglyphics 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