Progeroid features-hepatocellular carcinoma predisposition syndrome

Orpha code: 435953OMIM code: 616200

Definicja

A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.

Disease data
Klasyfikacja

Disease

Synonimy
Ruijs-Aalfs syndrome
Zespół Ruijsa i Aalfsa
Kod ORPHA
435953
Kod OMIM
616200
Kod ICD10
-
Kod ICD11
-

No additional description.

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