Craniometaphyseal Dysplasia

Description

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Clinical Features

Top most frequent phenotypes and symptoms related to Craniometaphyseal Dysplasia

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Visual impairment
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy
  • Macrocephaly

And another 33 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.

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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Craniometaphyseal Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Oculodentodigital Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

GJA1
Specificity
100 %
Genes
50 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Heterotaxy V2 Panel.

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

ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL
Specificity
6 %
Genes
50 %
GJA1 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

GJA1
Specificity
100 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
50 %
GJA1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GJA1
Specificity
100 %
Genes
50 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
GJA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GJA1
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D MARDEN-WALKER SYNDROME; MWKS CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D IMMUNODEFICIENCY 31A; IMD31A CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q

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