Leri pleonosteosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 53
OrphanetNr: 2900
OMIM Id: 151200
ICD-10: Q68.8
UMLs: C0265311
C1835450
MeSH: C537118
MedDRA:
Snomed: 41656005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with synostosis or other joint formation defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] rare [HPO:skoehler] 197 / 7739
2
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
3
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
4
 (HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
5
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
6
 (HPO:0007311) Short stepped shuffling gait 3 / 7739
7
 (HPO:0006487) Bowing of the long bones 95 / 7739
8
 (HPO:0006247) Enlarged interphalangeal joints 2 / 7739
9
 (HPO:0000925) Abnormality of the vertebral column 20 / 7739
10
 (HPO:0002967) Cubitus valgus Frequent [Orphanet] rare [HPO:skoehler] 49 / 7739
11
 (HPO:0011304) Broad thumb 39 / 7739
12
 (HPO:0010049) Short metacarpal 99 / 7739
13
 (HPO:0001376) Limitation of joint mobility 27 / 7739
14
 (HPO:0009778) Short thumb 50 / 7739
15
 (HPO:0002816) Genu recurvatum Very frequent [Orphanet] 30 / 7739
16
 (HPO:0001822) Hallux valgus 70 / 7739
17
 (HPO:0002857) Genu valgum 144 / 7739
18
 (HPO:0100795) Abnormally straight spine Frequent [Orphanet] 2 / 7739
19
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
20
 (HPO:0001761) Pes cavus 225 / 7739
21
 (HPO:0006009) Broad phalanx 11 / 7739
22
 (HPO:0001230) Broad metacarpals 17 / 7739
23
 (HPO:0005830) Flexion contracture of toe 9 / 7739
24
 (HPO:0009803) Short phalanx of finger 79 / 7739
25
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
26
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
27
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
28
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
29
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
30
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
31
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
32
 (HPO:0010743) Short metatarsal 56 / 7739
33
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
34
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
35
 (HPO:0001191) Abnormality of the carpal bones 6 / 7739
36
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
37
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
38
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
39
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
40
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
41
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
42
 (HPO:0001602) Laryngeal stenosis 21 / 7739
43
 (OMIM) Dense islands of connective tissue 1 / 7739
44
 (OMIM) Bony overgrowth of the vertebral bodies 1 / 7739
45
 (OMIM) Enlarged posterior neural arches of cervical vertebrae 1 / 7739
46
 (OMIM) Thick palmar fascia 1 / 7739
47
 (OMIM) Hyaline changes 1 / 7739
48
 (OMIM) Spade-like hands 1 / 7739
49
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
50
 (OMIM) Thickening of fascia of forearm 1 / 7739
51
 (OMIM) Fibrosis seen on biopsy 2 / 7739
52
 (OMIM) Broad thumbs in valgus position 1 / 7739
53
 (OMIM) Bony overgrowth of the posterior arches 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rukavina et al. (1959) reported Leri pleonosteosis in 4 generations of a family. The features were short stature, narrowed palpebral fissures, short spade-like hands, broad thumbs in valgus position, genu recurvatum and generalized limitation of joint mobility, thickening ...