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. [ Orphanet:2900 ]
Synonyms: Leri pleonosteosis leri pleonosteosis chromosome duplication syndrome
Term information
- Orphanet:2900 (OMIM:151200)
- OMIM:151200 (Orphanet:2900/e)
- UMLS:C1835450 (MONDO:equivalentTo)
- NORD:1364 (MONDO:NORD)
- MEDGEN:331978 (MONDO:equivalentTo)
- MESH:C537118 (Orphanet:2900/e)
- GARD:88 (MONDO:GARD)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/4948
http://identifiers.org/medgen/331978
https://omim.org/entry/151200
http://www.orpha.net/ORDO/Orphanet_2900
http://identifiers.org/mesh/C537118
http://linkedlifedata.com/resource/umls/id/C1835450
pleonosteosis Leri type
chromosome 8q22.1 DUPLICATION syndrome
Leri's pleonosteosis
Leri type pleonosteosis