U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Metaphyseal chondrodysplasia, Kaitila type

MedGen UID:
344446
Concept ID:
C1855217
Disease or Syndrome
Synonym: Metaphyseal Chondrodysplasia, Kaitila Type
SNOMED CT: Metaphyseal chondrodysplasia Kaitila type (770909004)
 
Monarch Initiative: MONDO:0009594
OMIM®: 250230
Orphanet: ORPHA166038

Definition

A rare multiple metaphyseal dysplasia disease with characteristics of disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetaphyseal chondrodysplasia, Kaitila type
Follow this link to review classifications for Metaphyseal chondrodysplasia, Kaitila type in Orphanet.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...