Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02543 Acromesomelic dysplasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06507 TGFB signaling
H02543 Acromesomelic dysplasia
Endocrine system
nt06325 Hormone/cytokine signaling
H02543 Acromesomelic dysplasia
Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldan B, Nishimura G, Offiah AC, Faruq M, Heath KE
Title
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, axial (SMDAX) Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) Spondylometaphyseal dysplasia, Sedaghatian type [DS:H01825] Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type [DS:H01830] Spondylometaphyseal dysplasia with cone-rod dystrophy [DS:H01821] spondylometaphyseal dysplasia, Pagnamenta type (SMDP)
Description
The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02185 Spondylometaphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02185 Spondylometaphyseal dysplasia
Endocrine system
nt06325 Hormone/cytokine signaling
H02185 Spondylometaphyseal dysplasia
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM
Title
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
