Craniofacial Dysplasia-osteopenia Syndrome

Description

Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

Clinical Features

Top most frequent phenotypes and symptoms related to Craniofacial Dysplasia-osteopenia Syndrome

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism
  • Low-set ears
  • High palate
  • Wide nasal bridge
  • Myopia
  • Dysphagia

And another 32 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

Craniofacial Dysplasia-osteopenia Syndrome Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility, hamamy 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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Craniofacial Dysplasia-osteopenia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hamamy syndrome (sequence analysis of IRX5 gene).

By CGC Genetics (Portugal).

IRX5
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics (Portugal).

BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hamamy syndrome.

By Centogene AG - the Rare Disease Company (Germany).

IRX5
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...)

View the complete list with 367 more genes
Specificity
1 %
Genes
100 %
IRX5.

By Fulgent Genetics Fulgent Genetics (United States).

IRX5
Specificity
100 %
Genes
100 %

We have -2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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