Abnormal cartilage matrix

MedGen UID:: 870280
•Concept ID:: C4024721
•: Anatomical Abnormality

HPO:	HP:0008178

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal cartilage matrix

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Abnormal cartilage morphology
        Abnormal cartilage matrix

Conditions with this feature

Lethal Larsen-like syndrome

MedGen UID:: 343375
•Concept ID:: C1855535
•: Disease or Syndrome

A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.

See: Condition Record

Lethal Larsen-like syndrome

Professional guidelines

PubMed

Clinical and genetic evaluation of children with short stature of unknown origin.

Zhao Q, Li Y, Shao Q, Zhang C, Kou S, Yang W, Zhang M, Ban B
BMC Med Genomics 2023 Aug 21;16(1):194. doi: 10.1186/s12920-023-01626-4. PMID: 37605180 Free PMC Article

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765 Free PMC Article

Mechanosignalling in cartilage: an emerging target for the treatment of osteoarthritis.

Hodgkinson T, Kelly DC, Curtin CM, O'Brien FJ
Nat Rev Rheumatol 2022 Feb;18(2):67-84. Epub 2021 Dec 21 doi: 10.1038/s41584-021-00724-w. PMID: 34934171

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