|
ABS
MCID: CNS013
MIFTS: 34
|
Constricting Bands, Congenital (ABS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Constricting Bands, Congenital:
Name: Constricting Bands, Congenital
56
71
Characteristics:OMIM:56
Inheritance:
isolated cases
Miscellaneous:
incidence 1/1,200-1/15,000 live births distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
|
NIH Rare Diseases :
52
Amniotic band syndrome refers to a condition in which bands develop from the inner lining of the amnion . The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result in constriction of the affected area or even amputation. The signs and symptoms vary greatly depending on the area(s) of the body involved and may include: shortened or absent digits (fingers and/or toes) or limbs (arms and/or legs), an opening in the abdomen through which various abdominal organs can protrude (abdominal wall defects ), protrusion of a portion of the brain and its surrounding membranes through a skull defect (encephalocele ), and cleft lip and/or palate . In most instances, the cause of amniotic bands remains unknown. Researchers have suggested two main theories to explain the development: the extrinsic theory and the intrinsic theory. The extrinsic theory states that amniotic band syndrome occurs due to factors found outside of the developing baby (externally); the intrinsic theory states that amniotic band syndrome occurs due to factors found within the baby (internally). Treatment differs depending on the severity of the condition and the areas of the body affected and may include surgery, physical therapy , and occupational therapy.
MalaCards based summary : Constricting Bands, Congenital, also known as amniotic band sequence, is related to gm2-gangliosidosis, ab variant and thymoma type ab. Affiliated tissues include brain, skin and lung, and related phenotypes are scoliosis and cleft palate Wikipedia : 74 Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown... more...
More information from OMIM:
217100
|
Human phenotypes related to Constricting Bands, Congenital:31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:217100 |
Interventional clinical trials:
|
MalaCards organs/tissues related to Constricting Bands, Congenital:40
Brain,
Skin,
Lung,
Bone,
T Cells,
Kidney,
Thyroid
|
Articles related to Constricting Bands, Congenital:(show top 50) (show all 325)
|
|
|
|
Search
GEO
for disease gene expression data for Constricting Bands, Congenital.
|
|
|
|