Medicine:Chondrodysplasia, Grebe type
| 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]
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
- ↑ "Chondrodysplasia, Grebe type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/1300/chondrodysplasia-grebe-type.
- ↑ 2.0 2.1 2.2 2.3 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. https://pubmed.ncbi.nlm.nih.gov/2703235/.
- ↑ 3.0 3.1 3.2 3.3 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" (in en). 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. https://www.sciencedirect.com/science/article/abs/pii/S107921049680045X.
- ↑ "Chondrodysplasia, Grebe type". https://rarediseases.info.nih.gov/diseases/1300/chondrodysplasia-grebe-type.
- ↑ Genovesi, Maria Luce; Guadagnolo, Daniele; Marchionni, Enrica; Giovannetti, Agnese; Traversa, Alice; Panzironi, Noemi; Bernardo, Silvia; Palumbo, Pietro et al. (2021-03-01). "GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype–phenotype correlations" (in en). Bone 144: 115803. doi:10.1016/j.bone.2020.115803. ISSN 8756-3282. PMID 33333243. https://www.sciencedirect.com/science/article/abs/pii/S8756328220305913.
- ↑ "Chondrodysplasia, Grebe Type - Tests - GTR - NCBI". https://www.ncbi.nlm.nih.gov/gtr/tests/256850/.
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