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acromesomelic dysplasia, Grebe type

Disease Summary
Associated Targets (3)
Tchem

1

Tbio

1

Tdark

1


GARD Rare
Mondo Description Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of 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.
Uniprot Description An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders 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). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008703:  acromesomelic dysplasia, Grebe type
GARD:0001300: 
NCIT:C3816: 
Orphanet:2098: 
UMLS:C0265260: