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Disease Profile

Ring chromosome 7

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

Q93.2

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)

Chromosome 7 ring; Ring 7; R7

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

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

Orpha Number: 1449

Definition
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).

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
Abnormal posterior cranial fossa morphology
0000932
Bilateral ptosis
Drooping of both upper eyelids
0001488
Brachycephaly
Short and broad skull
0000248
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Flat face
Flat facial shape
0012368
Flat forehead
Flattened forehead
0004425
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Hypogonadism
Decreased activity of gonads
0000135
Hypospadias
0000047
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Low anterior hairline
Low frontal hairline
Low-set frontal hairline

[ more ]

0000294
Malar flattening
Zygomatic flattening
0000272
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Motor delay
0001270
Narrow mouth
Small mouth
0000160
Prominent crus of helix
0009899
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Severe global developmental delay
0011344
Severe intrauterine growth retardation
Severe prenatal growth deficiency
0008846
Short philtrum
0000322
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small earlobe
Small earlobes
0000385
Speech articulation difficulties
0009088
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Unilateral ptosis
Dropping of one upper eyelid
0007687
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
30%-79% of people have these symptoms
Heart murmur
Heart murmurs
0030148
Narrow naris
Narrow nostrils
Slit-like nostrils
Small nostrils
Thin nostrils

[ more ]

0009933
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Slender finger
Narrow fingers
Slender fingers
thin fingers

[ more ]

0001238
Ventriculomegaly
0002119
5%-29% of people have these symptoms
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly

[ more ]

0001317
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Cafe-au-lait spot
0000957
Esotropia
Inward turning cross eyed
0000565
Facial hemangioma
0000329
Genu valgum
Knock knees
0002857
Hydrocele testis
0000034
Hyperpigmented nevi
0007481
Lumbar kyphoscoliosis
0004619
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Melanoma
0002861
Single transverse palmar crease
0000954
Small hand
Disproportionately small hands
0200055
1%-4% of people have these symptoms
3-4 toe syndactyly
Webbed 3rd-4th toes
0009779
Bifid uvula
0000193
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Holoprosencephaly
0001360
Median cleft palate
Central cleft palate
Midline cleft palate

[ more ]

0009099
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Short 5th finger
Short fifth finger
Short fifth fingers
Short little finger
Short pinkie finger
Short pinky finger

[ more ]

0009237
Situs inversus totalis
All organs on wrong side of body
0001696

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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.
    • 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 Ring chromosome 7. Click on the link to view a sample search on this topic.