Chondrodysplasia, Grebe type

Last updated
Chondrodysplasia, Grebe type
Specialty Medical genetics
Symptoms Dwarfism, Dysmelia
Causes GDF5 gene mutation
Diagnostic method 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]

Contents

Signs and symptoms

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

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. [2] [3] Because of this, 60% of people with chondrodysplasia Grebe type have consanguinous parents. [3]

Diagnosis

Due to the small number of signs and symptoms, and rarity, chondrodysplasia Grebe type is hard to diagnose. [2] Genetic testing, usually exome sequencing, is used to identify the mutation to the GDF5 gene. [6]

References

  1. ↑ "Chondrodysplasia, Grebe type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 14 April 2021.
  2. 1 2 3 4 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. doi:10.1007/BF00283684. ISSN   0340-6717. PMID   2703235. S2CID   27942659.
  3. 1 2 3 4 Hattab, F. N.; Al-Khateeb, T.; Mansour, M. (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. 81 (5): 550–555. doi:10.1016/S1079-2104(96)80045-X. ISSN   1079-2104. PMID   8734701.
  4. ↑ "Chondrodysplasia, Grebe type". Genetic and Rare Diseases Information Center. Archived from the original on 18 March 2021. Retrieved 26 February 2023.
  5. ↑ 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 (2021-03-01). "GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype–phenotype correlations". Bone. 144 115803. doi:10.1016/j.bone.2020.115803. hdl: 11573/1493515 . ISSN   8756-3282. PMID   33333243. S2CID   229315625.
  6. ↑ "Chondrodysplasia, Grebe Type - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-14.
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