|
MCID: PLV018
MIFTS: 16
|
Pelvic Hypoplasia with Lower-Limb Arthrogryposis
Categories:
Bone diseases, Fetal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Pelvic Hypoplasia with Lower-Limb Arthrogryposis:
Name: Pelvic Hypoplasia with Lower-Limb Arthrogryposis
56
Classifications:
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
|
NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2840 Definition Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis , and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs. Visit the Orphanet disease page for more resources.
MalaCards based summary : Pelvic Hypoplasia with Lower-Limb Arthrogryposis, is also known as pelvic dysplasia-arthrogryposis of lower limbs syndrome. Affiliated tissues include bone and skeletal muscle, and related phenotypes are depressed nasal bridge and gait disturbance
More information from OMIM:
602484
|
|
|
Human phenotypes related to Pelvic Hypoplasia with Lower-Limb Arthrogryposis:58 31 (show all 11)
|
|
|
MalaCards organs/tissues related to Pelvic Hypoplasia with Lower-Limb Arthrogryposis:40
Bone,
Skeletal Muscle
|
Articles related to Pelvic Hypoplasia with Lower-Limb Arthrogryposis:
|
|
|
|
Search
GEO
for disease gene expression data for Pelvic Hypoplasia with Lower-Limb Arthrogryposis.
|
|
|
|