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Disease Profile

Cerebro-costo-mandibular syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cerebrocostomandibular syndrome ; CCMS; CCM syndrome;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening.[1][2] Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported.[2] No specific gene known to cause the condition has been identified.[3] Treatment and prognosis depend on the features and severity in each affected person.[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bell-shaped thorax
0001591
Cleft palate
Cleft roof of mouth
0000175
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal

[ more ]

0002643
Posterior rib gap
0030282
30%-79% of people have these symptoms
Atresia of the external auditory canal
Absent ear canal
0000413
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Glossoptosis
Retraction of the tongue
0000162
Intellectual disability
Mental retardation
Mental deficiency
Mental-retardation
Mental retardation, nonspecific

[ more ]

0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Kyphosis
Hunched back
Round back

[ more ]

0002808
Short stature
Decreased body height
Small stature

[ more ]

0004322
Tracheomalacia
Floppy windpipe
0002779
5%-29% of people have these symptoms
Anal stenosis
Narrowing of anal opening
0002025
Anteriorly placed anus
0001545
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Hydranencephaly
0002324
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Multicystic kidney dysplasia
0000003
Myelomeningocele
0002475
Porencephalic cyst
Cavity within brain
0002132
Short hard palate
0010290
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Webbed neck
Neck webbing
0000465
Percent of people who have these symptoms is not available through HPO
11 pairs of ribs
0000878
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Anomalous rib insertion to vertebrae
0006593
Anomalous tracheal cartilage
0004468
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal dominant inheritance
0000006
Calcaneal epiphyseal stippling
0004695
Cleft soft palate
0000185
Congenital hip dislocation
Dislocated hip since birth
0001374
Ectopic kidney
Abnormal kidney location
Displaced kidney

[ more ]

0000086
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures

[ more ]

0002987
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Horseshoe kidney
Horseshoe kidneys
0000085
Long philtrum
0000343
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Nasal speech
Nasal voice
0001611
Patent ductus arteriosus
0001643
Polyhydramnios
High levels of amniotic fluid
0001561
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Postnatal growth retardation
Growth delay as children
0008897
Renal cyst
Kidney cyst
0000107
Rib gap
0030280
Scoliosis
0002650
Short humerus
Short long bone of upper arm
Short upper arms

[ more ]

0005792
Thoracic hypoplasia
Small chest
Small thorax

[ more ]

0005257

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Carol A. Bocchini. CEREBROCOSTOMANDIBULAR SYNDROME. OMIM. May 13, 2011; https://omim.org/entry/117650. Accessed 5/19/2014.
  2. CEREBROCOSTOMANDIBULAR SYNDROME. NORD. April 25, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/508/viewAbstract. Accessed 5/19/2014.
  3. Hiroyuki Nagasawa. Cerebro-costo-mandibular syndrome. Orphanet. May, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1393. Accessed 5/19/2014.
  4. Su PH, Chen JY, Chiang CL, Ng YY, Chen SJ. Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome. Clin Dysmorphol. April, 2010; 19(2):51-55. Accessed 5/19/2014.

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