Cenani-Lenz syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SYNDACTYLY, TYPE VII
CENANI SYNDACTYLISM
CLSS
Syndactyly type 7
cenani-lenz syndactyly
Cenani syndactyly
Number of Symptoms 54
OrphanetNr: 3258
OMIM Id: 212780
ICD-10: Q78.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
2
 (HPO:0000104) Renal agenesis 68 / 7739
3
 (HPO:0000089) Renal hypoplasia 78 / 7739
4
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
5
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
6
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
7
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
8
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
9
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
10
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
11
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
12
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
13
 (HPO:0011220) Prominent forehead 137 / 7739
14
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
15
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
16
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
17
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
18
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
21
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
22
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
23
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
24
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
25
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
26
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
27
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
28
 (HPO:0010760) Absent toe Occasional [Orphanet] 15 / 7739
29
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
30
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
31
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
32
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
33
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
34
 (HPO:0100240) Synostosis of joints Very frequent [Orphanet] 11 / 7739
35
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
36
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
37
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
38
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
39
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
40
 (HPO:0001159) Syndactyly 140 / 7739
41
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
42
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
43
 (HPO:0002983) Micromelia Occasional [Orphanet] 130 / 7739
44
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
45
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
46
 (HPO:0007477) Abnormal dermatoglyphics Occasional [Orphanet] 72 / 7739
47
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
48
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
49
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
50
 (OMIM) Syndactyly, total or partial 1 / 7739
51
 (OMIM) Malformed phalanges 1 / 7739
52
 (OMIM) Fused ulna and radius 1 / 7739
53
 (OMIM) Fused metacarpals 1 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cenani and Lenz (1967) described 2 brothers with a form of syndactyly resembling that of Apert syndrome (101200). However, additional features were severe shortening of the ulna and radius with fusion, fusion of the metacarpals and 'disorganization' of ...
Molecular genetics OMIM In 14 unrelated consanguineous families with Cenani-Lenz syndactyly syndrome, Li et al. (2010) sequenced the candidate gene LRP4 and identified homozygous and compound heterozygous missense and splice site mutations (see, e.g., 604270.0001-604270.0008) that segregated with disease in 12 ...