acromesomelic dysplasia 2A
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.
MONDO:0019648
achondrogenesis
is_a
MONDO:0019696
acromesomelic dysplasia
is_a
AMDG
related
Brazilian achondrogenesis
related
GREBE chondrodysplasia
exact
Grebe chondrodysplasia
exact
Grebe dysplasia
exact
Grebe syndrome
related
Langer-Saldino achondrogenesis
exact
achondrogenesis type II (formerly)
related
acromesomelic dysplasia 2A
exact
acromesomelic dysplasia, Grebe type
exact
chondrodysplasia, Grebe type
exact
type II achondrogenesis
exact