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Disease Profile

Craniofacial dyssynostosis

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

Q87.0

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.

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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)

Craniosynostosis-craniofacial dysostosis syndrome; Craniofacial dyssynostosis and short stature

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1516

Definition
Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.

Visit the Orphanet disease page for more resources.

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
Craniosynostosis
0001363
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Frontal bossing
0002007
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Severe global developmental delay
0011344
30%-79% of people have these symptoms
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Short philtrum
0000322
Short stature
Decreased body height
Small stature

[ more ]

0004322
Stenosis of the external auditory canal
Narrowing of passageway from outer ear to middle ear
0000402
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Umbilical hernia
0001537
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
5%-29% of people have these symptoms
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Nevus flammeus
port-wine stain
0001052
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Patent ductus arteriosus
0001643
Sacral dimple
Spinal dimple
0000960
Short neck
Decreased length of neck
0000470
Percent of people who have these symptoms is not available through HPO
Abnormal location of ears
0000357
Abnormal shape of the occiput
Abnormal shape of posterior skull
Abnormal shape of the back of the skull

[ more ]

0011217
Agenesis of corpus callosum
0001274
Arnold-Chiari type I malformation
0007099
Brachyturricephaly
High, prominent forehead
0000244
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Enlarged cisterna magna
0002280
Esotropia
Inward turning cross eyed
0000565
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
High forehead
0000348
Horseshoe kidney
Horseshoe kidneys
0000085
Hypospadias
0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Narrow forehead
Decreased width of the forehead
0000341
Pyloric stenosis
0002021
Seizure
0001250
Sporadic
No previous family history
0003745
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Ventriculomegaly
0002119

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.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Craniofacial dyssynostosis. Click on the link to view a sample search on this topic.