Acromesomelic Dysplasia 2a (AMD2A)

External Ids:

OMIM®: ⁵⁷ Acromesomelic dysplasia-2A (AMD2A), or Grebe chondrodysplasia, is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997). Because Grebe syndrome exhibits increasing severity in a proximal-distal gradient, it is classified as a form of acromesomelic dysplasia (Costa et al., 1998). For discussion of the genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). (200700) (Updated 08-Dec-2022)

MalaCards based summary: Acromesomelic Dysplasia 2a, also known as chondrodysplasia, grebe type, is related to acromesomelic dysplasia 2c and acromesomelic dysplasia 1. An important gene associated with Acromesomelic Dysplasia 2a is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are ERK Signaling and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, skin and heart, and related phenotypes are skeletal dysplasia and bowing of the long bones

UniProtKB/Swiss-Prot: ⁷³ A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2A is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.

GARD: ¹⁹ A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

Orphanet: ⁵⁸ A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

Disease Ontology: ¹¹ An acromesomelic dysplasia that has material basis in mutation in CDMP-1 which results in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.

Wikipedia: ⁷⁵ Chondrodysplasia Grebe type is a rare genetic disorder. It is caused by a mutation to the GDF5 gene.... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Acromesomelic Dysplasia 2a