3mc Syndrome 3; 3mc3

Description

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to 3mc Syndrome 3; 3mc3

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape

And another 60 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

3mc Syndrome 3; 3mc3 Is also known as malpuech facial clefting syndrome, formerly, facial clefting syndrome, gypsy type.

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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3mc Syndrome 3; 3mc3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COLEC10.

By Fulgent Genetics Fulgent Genetics (United States).

COLEC10
Specificity
100 %
Genes
100 %
3MC Syndrome Type 3, Sequencing COLEC10 Gene.

By Reference Laboratory Genetics (Spain).

COLEC10
Specificity
100 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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