Hyperostosis Corticalis Generalisata

Description

Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperostosis Corticalis Generalisata

  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Optic atrophy
  • Blindness
  • Headache
  • Mandibular prognathia
  • Facial palsy
  • Overgrowth
  • Increased bone mineral density

And another 11 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

Hyperostosis Corticalis Generalisata Is also known as hyperphosphatasemia tarda, hyperostosis corticalis generalisata, van buchem disease, endosteal hyperostosis, autosomal recessive.

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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Hyperostosis Corticalis Generalisata Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
LRP5 (OPPG) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LRP5
Specificity
100 %
Genes
50 %
LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LRP5
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DNAJB11, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD2, PKHD1, PRKCSH
Specificity
12 %
Genes
50 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Osteoporosis Pseudoglioma Syndrome.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

LRP5
Specificity
100 %
Genes
50 %
Polycystic kidney and liver disease modifier panel.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

HNF1B, TSC1, TSC2, UMOD, DNAJB11, SEC61B, SEC61A1, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, REN
Specificity
6 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KAHRIZI SYNDROME; KHRZ EPILEPSY, IDIOPATHIC GENERALIZED; EIG LENTIGINOSIS, INHERITED PATTERNED HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE AICARDI-GOUTIERES SYNDROME 3; AGS3

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