Cenani-Lenz Syndactyly Syndrome (CLSS)

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OMIM 57 212780 Disease Ontology 12 DOID:0090015 ICD10 33 Q78.4 Orphanet 59 ORPHA3258 UMLS via Orphanet 74 C1859309 ICD10 via Orphanet 34 Q78.4

MedGen 42 C1859309 MeSH 44 D013576 KEGG 37 H00853 SNOMED-CT via HPO 69 258211005 32659003 204942005 194021007 22006008 32958008 103276001 15188001 343087000 95828007 275478007 246800008 11934000 128306009 193570009 247053007 18265008 563001 127559009 62909004 64969001 40930008 373413006 38086007 32113001 249820005 90145001 111266001 64217002 157265008 33313004 74370006 205170001 93288001 125617002 417558002 249310005 249769001 268251006 34048007 83145004 253936008 more UMLS 73 C1859309

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3258Disease definitionCenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.EpidemiologyFewer than 30 cases have been described and the exact incidence has not been evaluated. The majority of cases occurred in related families.Clinical descriptionClassical CLS is characterized by the almost symmetrical presence of a total fusion of fingers and synostosis of the hand bones, giving the hands a mitten-like appearance. A variant of the syndrome, with oligodactyly and partial syndactyly, has been reported. The following features characterize the syndrome: carpal, metacarpal and digital synostoses, disorganization of the carpal bones, numeric reduction of the digital rays and toe syndactyly. Other features are radioulnar synostosis with shortening of the radius and ulna, brachymesomelia, radius head dislocation and metatarsal synostoses. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemivertebral anomalies) have occasionally been reported. A few publications associate CLS with other, more frequent, forms of syndactyly. Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short prominent philtrum and malar hypoplasia) has been described in isolated cases.EtiologyThe disease is transmitted as an autosomal recessivetrait. Homozygous or compound heterozygousmutations of the LRP4 gene (11p12-p11.2) have been identified. A heterozygous duplication of 1.7 Mb covering the GREM1 and FMN1 genes has also been reported in a CLS-like form of the syndrome.Diagnostic methodsDiagnosis is essentially clinical.Differential diagnosisCLS can be distinguished clinically from other limb malformations.Antenatal diagnosisDiagnosis can be suspected antenatally by ultrasonography. As an autosomal recessive syndrome, recurrence risk for CLS is 25% for a subsequent pregnancy.Management and treatmentSurgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory.PrognosisFunctional prognosis depends on the specific limb anomalies of the patient.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cenani-Lenz Syndactyly Syndrome, also known as syndactyly cenani lenz type, is related to kabuki syndrome 1 and renal hypoplasia. An important gene associated with Cenani-Lenz Syndactyly Syndrome is LRP4 (LDL Receptor Related Protein 4), and among its related pathways/superpathways are Signaling by Wnt and Degradation of the extracellular matrix. Affiliated tissues include bone, colon and thymus, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : ¹² A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has material basis in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.

UniProtKB/Swiss-Prot : ⁷⁵ Cenani-Lenz syndactyly syndrome: A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet.

Description from OMIM: 212780

Clinical features from OMIM:

212780

Search Clinical Trials , NIH Clinical Center for Cenani-Lenz Syndactyly Syndrome

Search GEO for disease gene expression data for Cenani-Lenz Syndactyly Syndrome.