Leri pleonosteosis

Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001167 Abnormality of finger Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002816 Genu recurvatum Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0100679 Lack of skin elasticity Very frequent (99-80%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0001482 Subcutaneous nodule Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002967 Cubitus valgus Frequent (79-30%)
HP:0012745 Short palpebral fissure Frequent (79-30%)
HP:0100795 Abnormally straight spine Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0003042 Elbow dislocation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID