short-limbed dwarfism

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• immunodeficiency with short-limbed dwarfism — short limbed dwarfism marked by short, pudgy hands, redundant skin, and hyperextensible joints of the hands and feet associated with immunodeficiency, which may be either antibody or cellular or combined …   Medical dictionary

• Dwarfism, thanatophoric — A form of short limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more… …   Medical dictionary

• syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

• Dysplasia, thanatophoric — A form of short limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more… …   Medical dictionary

• Thanatophoric dysplasia — A form of short limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more… …   Medical dictionary

• Achondroplasia — Classification and external resources Jason Acuña, alias Wee Man , a star of Jackass …   Wikipedia

• Ellis–van Creveld syndrome — Classification and external resources Polydactyly in Ellis–van Creveld syndrome ICD 10 Q …   Wikipedia

• Robinow syndrome — Classification and external resources An infant exhibiting the facial features of Robinow syndrome. ICD 10 Q …   Wikipedia

• genetic disease, human — Introduction       any of the diseases and disorders that are caused by mutations in one or more genes (gene).       With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization …   Universalium

• Ellis-van Creveld syndrome — Infobox Disease Name = Ellis van Creveld syndrome Caption = Polydactyly in Ellis van Creveld syndrome DiseasesDB = 29309 ICD10 = ICD10|Q|77|6|q|65 ICD9 = ICD9|756.55 ICDO = OMIM = 225500 MedlinePlus = 001667 eMedicineSubj = ped eMedicineTopic =… …   Wikipedia

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