Progeroid features-hepatocellular carcinoma predisposition syndrome

Orpha code: 435953OMIM code: 616200

Definition

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
Classification

Disease

Synonyms
Ruijs-Aalfs syndrome
Zespół Ruijsa i Aalfsa
ORPHA code
435953
OMIM code
616200
ICD10 code
-
ICD11 code
-

No additional description.

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