Acromesomelic dysplasia Grebe type

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)

The Akromesomele dysplasia Grebe type (AMDG) is a form of very rare to the innate skeletal dysplasias associated akromesomelen dysplasia .

Synonyms are: Grebe type chondrodysplasia; Grebe's chondrodysplasia; Grebe dysplasia; English Achondrogenesis, Brazilian; outdated: Achondrogenesis, Type II

The name refers to the first description by Hans Grebe .

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

The disease are mutations in GDF5 - gene on chromosome 20 locus q11.22 based on which permanent cartilage for the morphogenetic protein 1 encoded (CDMP-1).

The same gene is also modified in the Hunter-Thompson type (AMDH) and in type C brachydactyly .

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on clinical and radiological findings (shortened deformed tibia , radius and ulna , fusions in the wrist and tarsus, lack of individual bones in the hand and foot) and genetic examination .

literature

  • M. Umair, A. Rafique, A. Ullah, F. Ahmad, RH Ali, A. Nasir, M. Ansar, W. Ahmad: Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families. In: Congenital anomalies. Volume 57, number 2, March 2017, pp. 45-51, doi: 10.1111 / cga.12187 , PMID 27577507 .
  • S. Mumtaz, HF Riaz, M. Touseef, S. Basit, M. Faiyaz Ul Haque, S. Malik: Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population. In: Pakistan journal of medical sciences. Volume 31, number 6, 2015 Nov-Dec, pp. 1542–1544, doi: 10.12669 / pjms.316.8115 , PMID 26870132 , PMC 4744317 (free full text).
  • M. Martinez-Garcia, E. Garcia-Canto, M. Fenollar-Cortes, AP Aytes, MJ Trujillo-Tiebas: Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. In: Journal of bone and mineral metabolism. Volume 34, Number 5, September 2016, pp. 599-603, doi: 10.1007 / s00774-015-0693-z , PMID 26275437 .

Individual evidence

  1. ↑ a b c d Dysplasia, acromesomele, Grebe type. In: Orphanet (Rare Disease Database).
  2. ↑ Who named it
  3. ↑ H. Grebe: The achondrogenesis: a simple recessive hereditary trait . In: Folia hereditaria et pathologicae Vol. 2, pp. 23-28, 1952.
  4. ↑ Chondrodysplasia, Grebe type.  In: Online Mendelian Inheritance in Man . (English)

Web links