Cenani-Lenz syndrome

Cenani-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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 17 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
10
(31.0%)
18085094
Longitudinal epiphyseal bracket.
Nguyen JQ, Gatewood JB, Beall D, Herndon W, Puffinberger WR, Ly J, Fish JR.
J Okla State Med Assoc. 2007;100(10):380-2.
Broad metatarsal Hallux varus
Bone Diseases, Developmental Females Hallux Varus Heterotopic Ossification Homo sapiens Infant, Newborn Magnetic Resonance Imaging
10
(31.0%)
15710123
A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification.
Harpf C, Pavelka M, Hussl H.
Br J Plast Surg. 2005;58(2):251-7.
Syndactyly
Fingers Homo sapiens Infant Male Reconstructive Surgical Procedures Syndactyly Toes
10
(31.0%)
14577675
Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly?
Percin EF, Percin S.
Genet Couns. 2003;14(3):313-9.
Cataract Syndactyly
rs267607224
Adult Females Homo sapiens Severity of Illness Index Syndactyly Syndrome
10
(31.0%)
10756427
A variant of Cenani-Lenz type syndactyly.
Seven M, Yuksel A, Ozkilic A, Elcioglu N.
Genet Couns. 2000;11(1):41-7.
Syndactyly
rs267607220 rs267607221
Congenital Hand Deformities Dermatoglyphics Females Homo sapiens Infant Syndactyly Syndrome
10
(31.0%)
8831136
Cenani-Lenz syndrome in father and daughter.
De Smet L, De Beer P, Fryns JP.
Genet Couns. 1996;7(2):153-7.
Syndactyly
Child, Preschool Females Homo sapiens Male Metacarpus Mosaicism Syndactyly Syndrome
10
(31.0%)
222668
Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.
Dodinval P.
Hum Genet. 1979;48(2):183-9.
Oligodactyly
Adult Females Forearm Genes, Recessive Genetic Counseling Homo sapiens Male Phenotype Syndactyly Syndrome
17
(30.8%)
12868467
Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.
Temtamy SA, Ismail S, Nemat A.
Clin Dysmorphol. 2003;12(2):77-83.
Hypertelorism Downslanted palpebral fissures
rs267607222
Adult Congenital Foot Deformity Dental Enamel Hypoplasia Females Genes, Dominant Genes, Recessive Homo sapiens Infant Male Syndactyly
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001817 Absent fingernail Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0012165 Oligodactyly Very frequent (99-80%)
HP:0100240 Synostosis of joints Very frequent (99-80%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001802 Absent toenail Frequent (79-30%)
HP:0002974 Radioulnar synostosis Frequent (79-30%)
HP:0002984 Hypoplasia of the radius Frequent (79-30%)
HP:0003022 Hypoplasia of the ulna Frequent (79-30%)
HP:0009778 Short thumb Frequent (79-30%)
HP:0000272 Malar flattening Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000411 Protruding ear Occasional (29-5%)
HP:0000444 Convex nasal ridge Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000656 Ectropion Occasional (29-5%)
HP:0000668 Hypodontia Occasional (29-5%)
HP:0000682 Abnormality of dental enamel Occasional (29-5%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0001601 Laryngomalacia Occasional (29-5%)
HP:0001849 Foot oligodactyly Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0002827 Hip dislocation Occasional (29-5%)
HP:0002983 Micromelia Occasional (29-5%)
HP:0003042 Elbow dislocation Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)
HP:0003312 Abnormal form of the vertebral bodies Occasional (29-5%)
HP:0004736 Crossed fused renal ectopia Occasional (29-5%)
HP:0007477 Abnormal dermatoglyphics Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0001159 Syndactyly 6
HP:0012165 Oligodactyly 2
HP:0002974 Radioulnar synostosis 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
APC APC regulator of WNT signaling pathway 324
LRP4 LDL receptor related protein 4 4038