Osteocraniostenosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

Genes related to Osteocraniostenosis

FAM111A

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Clinical Features

Top most frequent phenotypes and symptoms related to Osteocraniostenosis

Seizures
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly
Growth delay
Hypertelorism
Failure to thrive
Abnormal facial shape
Cleft palate

And another 55 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

Osteocraniostenosis Is also known as habrodysplasia, osteocraniostenosis, gracile bone dysplasia, skeletal dysplasia, lethal, with gracile bones, osteocraniosplenic 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.

Osteocraniostenosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypoparathyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). STX16, TBCE, TBX1, CASR, CHD7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH Specificity 6 % Genes 100 %
Hypoparathyroidism sequencing panel. By Genetic Services Laboratory University of Chicago (United States). STX16, TBCE, TBX1, CASR, CDH7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH Specificity 6 % Genes 100 %
Kenny-Caffey syndrome, type 2 (KCS2, sequence analysis of FAM111A gene). By CGC Genetics (Portugal). FAM111A Specificity 100 % Genes 100 %
Hypomagnesemia (NGS panel for 17 genes). By CGC Genetics (Portugal). CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1 Specificity 6 % Genes 100 %
Hypomagnesemia (NGS panel for 17 genes). By CGC Genetics (Portugal). CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1 Specificity 6 % Genes 100 %
Kenny-Caffey Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TBCE, FAM111A Specificity 50 % Genes 100 %
Hypoparathyroidism Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SOX3, STX16, TBCE, CASR, FAM111A, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, AP2S1, PTH, PTH1R Specificity 7 % Genes 100 %
Hypomagnesemia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1 Specificity 7 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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