Alpha-1-antitrypsin deficiency

A hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.

Arachnodactyly

Abnormally long and slender fingers (\"spider fingers\").


Total: 1

                       


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PMID (PMCID)
11241486
 MALE Adult
Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa.
Rajagopalan B.
Am J Med Genet. 2001;99(3):181-4.
One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency.