Chondrodysplasia, Grebe type

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Chondrodysplasia, Grebe type
SpecialtyMedical genetics
SymptomsDwarfism, Dysmelia
CausesGDF5 gene mutation
Diagnostic methodExome 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.[3] There is significant phenotypic variability between individuals.[2]

Cause[]

Chondrodysplasia Grebe type is caused by a mutation to the GDF5 gene.[4] 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.[5]

References[]

  1. ^ "Chondrodysplasia, Grebe type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 14 April 2021.
  2. ^ a b c d 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. ^ a b c d 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. ^ 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.
  5. ^ "Chondrodysplasia, Grebe Type - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-14.
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