Chondrodysplasia, Grebe Type

Alternative Names

  • Achondrogenesis, Brazilian
  • Grebe Chondrodysplasia
  • Grebe Dysplasia
  • Acromesomelic Dysplasia, Grebe Type
  • AMDG
  • Achondrogenesis, Type II, Formerly
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

200700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

20q11.22

Description

Grebe type chondrodysplasia is a rare recessively inherited acromesomelic dysplasia clinically characterized by dwarfism with severe micromelia. Radiologically, it is characterized by short and deformed middle long bones, fusion of carpal bones and several metacarpal and metatarsal, and absence of proximal and middle phalanges. Other features include obesity and delayed mental development, but facial appearance and intelligence are normal with no vertebral abnormalities.

Grebe syndrome is associated with mutations in the CDMP1 gene, which encodes Growth/differentiation factor 5 (GDF-5). GDF-5 protein is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
200700.2.1OmanMaleYesYes Aplasia/hypoplasia of the extremities; ... NM_001319138.2:c.1144delHomozygousAutosomal, RecessiveAl-Yahyaee et al. 2003
200700.2.2OmanMaleYesYes Aplasia/hypoplasia of the extremities; ... NM_001319138.2:c.1144delHomozygousAutosomal, RecessiveAl-Yahyaee et al. 2003 Brother of 200700.2....
200700.2.3OmanFemaleYesYes Aplasia/hypoplasia of the extremities; ... NM_001319138.2:c.1144delHomozygousAutosomal, RecessiveAl-Yahyaee et al. 2003 Sister of 200700.2.1
200700.1.1Saudi ArabiaFemaleYesYes Mesomelic/rhizomelic limb shortening; H... NM_001319138.2:c.1285T>CHomozygousAutosomal, RecessiveFaiyaz-Ul-Haque et al. 2008
200700.1.2Saudi ArabiaMaleYesYes Mesomelic/rhizomelic limb shortening; ... NM_001319138.2:c.1285T>CHomozygousAutosomal, RecessiveFaiyaz-Ul-Haque et al. 2008 Brother of 200700.1....
200700.1.3Saudi ArabiaFemaleYesYes Short humerus; Hypoplasia of the radius... NM_001319138.2:c.1285T>CHomozygousAutosomal, RecessiveFaiyaz-Ul-Haque et al. 2008 Double first-cousin ...

Other Reports

Jordan

Hattab et al. (1996) described a 9-year-old Arab boy presenting oral and dental abnormalities associated with a distinct variety of severe short-limb dwarfism. The affected boy had delayed development and eruption of teeth, severe oligodontia of permanent dentition, hypodontia, microdontia, supplemental incisor, enamel hypoplasia of primary teeth, doubled and abnormal frenal attachments, bifid uvula, hypoplastic maxilla, and malocclusion. Clinical and radiographic examinations revealed asymmetric dysplasia and anaplasia of long bones, craniofacial dysmorphia, prominent forehead, budlike fingers and bulbous toes, dysplastic nails, severe hearing loss, and reduced joint mobility.

United Arab Emirates

Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirth at Corniche hospital, which is the only maternity hospital in Abu Dhabi, between January 1992 and January 1995. A total of 401 babies (16.6/1,000), including 289 Arabs, were seen with major malformation. Single gene disorders accounted for 24% of the cases, 76% were due to autosomal recessive disorders. In their study, Al Talabani et al. (1998) observed one case of Grebe type chondrodysplasia in a consanguineous family from the United Arab Emirates. Recurrence was also reported in the family. Al Talabani et al. (1998) concluded that their study was very close to representing the true incidence of congenital abnormalities in the whole United Arab Emirates, as they studied over 98% of deliveries in Abu Dhabi, the capital of United Arab Emirates.

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