Axial mesodermal dysplasia spectrum
Synonyms
1
Overview
A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
Symptoms
- Rib abnormalities
- Dextrocardia
- Dislocated hips
- Talipes equinovarus
- Imperforate anus
- Recto-vesicle fistula
- Atrial septal defect
- Poor sphincter control
- Digestive tract abnormalities
- Malformed scrotum
- Undescended testes
- Contractures in foot
- Absence of some spinal vertebral bodies
- Agenesis of sacrum
- Agenesis of coccyx
- Transverse 12th rib
- Small kidneys
- Poor bladder control
- Underdeveloped external genitals
- Vertebral anomalies
- Congenital heart disease
- Tracheoesophageal fistula
- Kidney anomalies
- Limb defects
- Incomplete spinal disks
- Urethral fistula
- Vaginal fistula
- Ventricular septal defect
- Absence of part or all of kidney
- Absent radial limb
- Absence of part of radial limb
- Extra fingers
- Missing fingers
- Growth retardation
- Malar hypoplasia
- Small jaw
- Small ears
- Accessory preauricular tags
- Preauricular pits
- Middle ear anomaly
- Deafness
- Epibulbar dermoid
- Lipodermoid
- Strabismus
- Small eye
- Inner ear defect
- Cleft lip
- Cleft palate
- Ureteral duplication
- Mental deficiency
- Underdeveloped lung
- Aplasia of lung
- Hydrocephalus
- Encephalocele
- Agenesis of corpus callosum
- Hypoplasia of septum pellucidum
Causes
- Situs inversus viscerum
- Marden-Walker syndrome
- Kartagener's syndrome
- Cumming syndrome
Resources
- NIH