Rare Nephrology News

Disease Profile

Chromosome 19q13.11 deletion 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

Infancy

ageofonset-infancy.svg

ICD-10

Q93.5

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

notapplicable.svg

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.[1][2] To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition.[3] Treatment is based on the signs and symptoms present in each person.[1][2]

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
Aplasia cutis congenita
Absence of part of skin at birth
0001057
Cachexia
Wasting syndrome
0004326
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Hypospadias
0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
30%-79% of people have these symptoms
Broad columella
0010761
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Dry skin
0000958
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Finger syndactyly
0006101
High forehead
0000348
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Nail dysplasia
Atypical nail growth
0002164
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Sparse hair
0008070
Sparse lateral eyebrow
Limited hair on end of eyebrow
0005338
Sparse or absent eyelashes
0200102
Supernumerary nipple
Accessory nipple
0002558
Thin skin
0000963
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Toe clinodactyly
0001863
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610
5%-29% of people have these symptoms
Bifid scrotum
Cleft of scrotum
0000048
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Congenital hip dislocation
Dislocated hip since birth
0001374
Febrile seizure (within the age range of 3 months to 6 years)
Fever induced seizures
0002373
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Single median maxillary incisor
Only one upper front tooth
0006315
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
Percent of people who have these symptoms is not available through HPO
Abnormal cardiac septum morphology
0001671
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal dominant inheritance
0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Cutaneous finger syndactyly
Webbed fingers
Webbed skin of fingers

[ more ]

0010554
Feeding difficulties in infancy
0008872
Global developmental delay
0001263
Hypodontia
Failure of development of between one and six teeth
0000668
Inguinal hernia
0000023
Long palpebral fissure
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids

[ more ]

0000637
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrotia
Large ears
0000400
Micrognathia
Li

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.

    Where to Start

    • Genetics Home Reference (GHR) contains information on Chromosome 19q13.11 deletion syndrome. This website is maintained by the National Library of Medicine.

      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 Chromosome 19q13.11 deletion syndrome. Click on the link to view a sample search on this topic.

        References

        1. Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet. September 2009; 46(9):635-640.
        2. Schuurs-Hoeijmakers JH, Vermeer S, van Bon BW, Pfundt R, Marcelis C, de Brouwer AP, de Leeuw N, de Vries BB. Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. J Med Genet. June 2009; 46(6):421-423.
        3. Chromosome 19q13.11 deletion syndrome. OMIM. September 2009; https://www.omim.org/entry/613026.

        Rare Nephrology News