Czeizel-Losonci syndrome

Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.



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
(34.6%)		 8074153
 Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome?
Genuardi M, Silvestri E, Tozzi C.
Am J Med Genet. 1994;51(3):247-50.
Hydronephrosis Syndactyly Split hand
Fatal Outcome Females Genes, Dominant Homo sapiens Hydronephrosis Infant, Newborn Limb Deformities, Congenital Neural Tube Defects Respiratory Diaphragm Syndactyly Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000079 Abnormality of the urinary system Frequent (79-30%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0001839 Split foot Frequent (79-30%)
HP:0002414 Spina bifida Frequent (79-30%)
HP:0012300 Ureteral agenesis Frequent (79-30%)
HP:0025193 Posterolateral diaphragmatic hernia Frequent (79-30%)
HP:0100257 Ectrodactyly Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000340 Sloping forehead Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000368 Low-set, posteriorly rotated ears Occasional (29-5%)
HP:0000474 Thickened nuchal skin fold Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0000954 Single transverse palmar crease Occasional (29-5%)
HP:0001233 2-3 finger syndactyly Occasional (29-5%)
HP:0001651 Dextrocardia Occasional (29-5%)
HP:0002089 Pulmonary hypoplasia Occasional (29-5%)
HP:0002475 Myelomeningocele Occasional (29-5%)
HP:0002557 Hypoplastic nipples Occasional (29-5%)
HP:0002575 Tracheoesophageal fistula Occasional (29-5%)
HP:0002944 Thoracolumbar scoliosis Occasional (29-5%)
HP:0003298 Spina bifida occulta Occasional (29-5%)
HP:0006097 3-4 finger syndactyly Occasional (29-5%)
HP:0006610 Wide intermamillary distance Occasional (29-5%)
HP:0008589 Hypoplastic helices Occasional (29-5%)
HP:0008593 Prominent antitragus Occasional (29-5%)
HP:0008676 Congenital megaureter Occasional (29-5%)
HP:0009112 Absent left hemidiaphragm Occasional (29-5%)
HP:0010539 Thin calvarium Occasional (29-5%)
HP:0010704 1-2 finger syndactyly Occasional (29-5%)
HP:0040021 Radial deviation of the thumb Occasional (29-5%)
HP:0045026 Abnormality of the mediastinum Occasional (29-5%)
HP:0100760 Clubbing of toes Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0001159 Syndactyly 1
HP:0001171 Split hand 1
HP:0001839 Split foot 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID