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cono-spondylar dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0018490

Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. [ Orphanet:420794 ]

Term info

database cross reference
  • UMLS:CN237491 (MONDO:equivalentTo)
  • Orphanet:420794 (MONDO:equivalentTo)
  • SCTID:766874001 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN237491, http://purl.obolibrary.org/obo/Orphanet_420794, http://identifiers.org/snomedct/766874001

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome

id

MONDO:0018490