Similar Diseases
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Results for Query ‹ Rhizomelia medication ›
Rhizomelic chondrodysplasia punctata – Treatment
Management of rhizomelic chondrodysplasia punctate can include physical therapy, additionally orthopedic procedures improved function sometimes in affected people. However the prognosis is poor in this condition.
Thanatophoric dysplasia – Abstract
Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.
Thanatophoric dysplasia – Diagnosis | Classification
Infants with type 1 thanatophoric dysplasia also have curved thigh bones, flattened bones of the spine (platyspondyly) and shortened thoracic ribs. Note: Prenatal ultra-sound images of the ribs sometimes appear asymmetrical when in fact they are not. In certain cases, this has caused a misdiagnosis of Osteogenisis Imperfecta (OI) type II.
An unusual head shape called kleeblattschädel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia.
Rhizomelic chondrodysplasia punctata – Diagnosis
The diagnosis of rhizomelic chondrodysplasia punctate can be based on genetic testing, as well as radiography results, plus an examination(physical) of the individual.
Dysmelia – Abstract
Dysmelia (from Gr. δυσ- "dys", "bad" + μέλ|ος "mél|os", "limb" + Eng. suff. -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.
Dysmelia – Causes
Dysmelia can be caused by
- inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes)
- external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome
- teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals
- ionizing radiation (nuclear weapons, radioiodine, radiation therapy)
- infections
- metabolic imbalance
Rhizomelia – Abstract
Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.
According to Stedman's medical dictionary "rhizomelic" means "relating to hip or shoulder joints", while "micromelic" means "having disproportionately short or small limbs".