Chondrodysplasia, Grebe type explained

Chondrodysplasia, Grebe type
Specialty:Medical genetics
Causes:GDF5 gene mutation
Symptoms:Dwarfism, Dysmelia
Diagnosis:Exome sequencing, clinical symptoms

Chondrodysplasia Grebe type is a rare genetic disorder. It is caused by a mutation to the GDF5 gene. This mutation may be inherited in an autosomal recessive pattern.[1]

Signs and symptoms

Chondrodysplasia Grebe type causes both dwarfism and dysmelia (short limb deformity).[2] [3] It may also cause dental problems. There is significant phenotypic variability between individuals.

At birth, patients with Grebe-type chondrodysplasia display severe dwarfism. Afflicted individuals may also experience severe shortening and deformities of the long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers, polydactyly, and absent joints.[4]

Cause

Chondrodysplasia Grebe type is caused by a mutation to the GDF5 gene.[5] It is inherited in an autosomal recessive pattern. Because of this, 60% of people with chondrodysplasia Grebe type have consanguinous parents.

Diagnosis

Due to the small number of signs and symptoms, and rarity, chondrodysplasia Grebe type is hard to diagnose. Genetic testing, usually exome sequencing, is used to identify the mutation to the GDF5 gene.[6]

References

  1. Web site: Chondrodysplasia, Grebe type Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 14 April 2021 . 18 March 2021 . https://web.archive.org/web/20210318232726/https://rarediseases.info.nih.gov/diseases/1300/chondrodysplasia-grebe-type . dead .
  2. Langer. L. O.. Cervenka. J.. Camargo. M.. March 1989. A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Human Genetics. 81. 4. 323–328. 10.1007/BF00283684. 0340-6717. 2703235. 27942659.
  3. 1996-05-01. Oral manifestations of severe short-limb dwarfism resembling Grebe chondrodysplasia: Report of a case. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. en. 81. 5. 550–555. 10.1016/S1079-2104(96)80045-X. 8734701. 1079-2104. Hattab. F. N.. Al-Khateeb. T.. Mansour. M..
  4. Web site: Chondrodysplasia, Grebe type . Genetic and Rare Diseases Information Center . 26 February 2023 . 18 March 2021 . https://web.archive.org/web/20210318232726/https://rarediseases.info.nih.gov/diseases/1300/chondrodysplasia-grebe-type . dead .
  5. 2021-03-01. GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype–phenotype correlations. Bone. en. 144. 115803. 10.1016/j.bone.2020.115803. 8756-3282. 11573/1493515. free. Genovesi. Maria Luce. Guadagnolo. Daniele. Marchionni. Enrica. Giovannetti. Agnese. Traversa. Alice. Panzironi. Noemi. Bernardo. Silvia. Palumbo. Pietro. Petrizzelli. Francesco. Carella. Massimo. Mazza. Tommaso. Pizzuti. Antonio. Caputo. Viviana. 33333243. 229315625.
  6. Web site: Chondrodysplasia, Grebe Type - Tests - GTR - NCBI. 2021-04-14. www.ncbi.nlm.nih.gov.

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