Progeroid Features-hepatocellular Carcinoma Predisposition Syndrome

Description

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

Clinical Features

Top most frequent phenotypes and symptoms related to Progeroid Features-hepatocellular Carcinoma Predisposition Syndrome

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain
  • Cataract
  • Flexion contracture
  • Skeletal muscle atrophy
  • Frontal bossing
  • Kyphosis

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Progeroid Features-hepatocellular Carcinoma Predisposition Syndrome Is also known as ruijs-aalfs syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Progeroid Features-hepatocellular Carcinoma Predisposition Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
SPRTN.

By Fulgent Genetics Fulgent Genetics (United States).

SPRTN
Specificity
100 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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