13q deletion syndrome

This is part of Rare diseases.

Diagnosis: 13q deletion syndrome

Synonyms: Monosomy 13q syndrome


Date of publication: 2008-12-15
Version: 2.0

The disease

13q deletion syndrome is a chromosomal disorder characterised by congenital malformations and intellectual disability. It is also known as monosomy 13q syndrome.

The syndrome was first described in 1963 by K.P. Lele. A comprehensive description was made in 1971 by Russian physician Dimitri Orbeli.


There are only a few individuals with 13q deletion syndrome in Sweden. Over 180 individuals with the syndrome have been described in the international medical literature.


In 13q deletion syndrome a portion of the long arm (q) on chromosome 13 is missing (deleted or monosomic). The monosomic chromosome is usually found in all cells in the body, but occasionally the deletion is only present in some cells. The result is a mixed population of cells where some are normal and some have the 13q deletion, a condition known as mosaicism.

In rare cases the syndrome is caused by a ring chromosome formation. Chromosome 13 has then lost parts of both the short arm (p) and the long arm (q) and the two broken ends have reunited to form a ring. As the genes on the short arm of chromosome 13 are relatively insignificant in comparison with those on the long arm, the clinical manifestation is similar to that seen in 13q deletion syndrome.

Deletions and ring chromosomes are usually not hereditary but occur during the formation of gametes (eggs and sperm). On rare occasions 13q deletion syndrome can also be inherited, for instance if one parent has the mosaic variant with the deletion in only some of the body’s cells.

If one parent has what is called a balanced translocation, a non-symptomatic rearrangement of chromosome material, this can also cause 13q deletion syndrome. A translocation means that one region from a certain chromosome is exchanged for a region from another chromosome, and in this case one of the chromosomes involved is from pair 13. The child would then be at risk of having an unbalanced translocation with both a 13q deletion and an extra region from another chromosome.


If the chromosome abnormality causing 13q deletion syndrome has occurred during the formation of gametes, both parents have normal chromosomes. The risk that they will have another child with the disorder is then minimal. In rare cases parental mosaicism has caused the syndrome, and there would then be an increased risk of having a second child with the chromosomal abnormality.

When the syndrome is caused by a balanced translocation in one of the parents, there is also a risk that siblings will be affected. A carrier of a balanced translocation usually does not have any symptoms that indicate a chromosome abnormality, but the translocation can lead to decreased fertility and a higher risk of having children with chromosome abnormalities, as unbalanced translocations may occur when gametes (reproductive cells) are formed. In the formation of gametes the number of chromosomes decreases by half, from 46 to 23, so that each sperm or egg has one chromosome from every pair. If only one of the two chromosomes that have exchanged regions is copied to a gamete, the result is an unbalanced translocation, meaning that there is an extra copy of a certain chromosome region while another region is missing. In case such a gamete is fertilized, this will lead either to miscarriage or the child being born with congenital malformations and intellectual disability.


13q deletion syndrome normally entails both intellectual disabilities and certain congenital malformations, but most children with the syndrome will not have all of the symptoms described below. The descriptions are meant to indicate to parents and health care personnel which anomalies may be present.

The severity of 13q deletion syndrome depends on the size and location of the deletion. A large deletion, especially from certain regions, will result in a more severe form of the disorder. The syndrome can be divided into three groups, depending on which region is missing (group 1: the upper part of the long arm down to band 13q32, group 2: band 13q32, group 3: the end of the long arm, bands 13q33-34). Children with a group 3 deletion have intellectual disabilities, but rarely any congenital malformations. Group 1 and 2 deletions involve congenital malformations, severe intellectual disabilities, and also retarded growth.

Infants with 13q deletion syndrome will have low birth weights owing to intrauterine growth restriction. On average, newborns with a deletion comprising half the long arm of chromosome 13 weigh 2000 g, are 40 cm long, and have a head circumference of 30 cm. Hypotonia (low muscle tone) is common. The condition usually improves in the first few years of the child’s life, although problems may persist. Poorly developed oral motor skills and sucking problems often lead to feeding difficulties. In some children, cleft palate exacerbates the feeding problems.

Chromosomal aberrations commonly give rise to characteristic physical features. In 13q deletion syndrome the eyes are often small (microphthalmia), and wide set (hypertelorism). A thin forehead, underdeveloped midface and a high-arched palate are common. Some children have cleft palate. The mouth and nose are usually small, and the nasal bridge may be flat. The ears may be low set and the lower jaw small (micrognathia). The neck is often short, and the hairline low. The teeth may erupt irregularly, and are sometimes malpositioned. Tooth enamel defects are common. An adult with the syndrome is usually short and may have a small head (microcephaly).

Almost all children with the syndrome are developmentally delayed. Many have moderate to severe intellectual disabilities, while others are only mildly affected. In rare cases, the deletion is small enough not to affect cognitive development. Some children have autistic traits or behavioural disorders. While some of the children with 13q deletion syndrome learn to talk, others use alternative means of communication.

Large deletions increase the risk of severe organ damage and the life expectancy of newborns may be shortened. Birth defects may occur even if only a small part of chromosome 13 is missing, but these can usually be treated surgically.

The heart

Many children with the syndrome have congenital heart defects. A common cardiac anomaly is a hole in the wall (the septum) between the right and left atria (atrium septum defect, ASD). Other common defects include a hole in the septum between the ventricles of the heart (ventricular septum defect, VSD), a narrowing of the pulmonary valve (pulmonary stenosis) or of the aorta (coarctation of the aorta), open ductus (patent ductus arteriosus, PDA), or Tetralogy of Fallot, which is a combination of four heart defects.

The brain

Some children have epilepsy. Premature closing of the cranial sutures (craniosynostosis) may result in an abnormal head shape, and a few children have hydrocephalus. Some are spastic and may be affected by leg and foot paralysis (spastic diplegia). Other examples of brain abnormalities include underdeveloped brain (cerebral hypotrophy), underdeveloped or absent corpus callosum (the band of nerve fibres connecting the two sides of the brain), and underdevelopment of the cerebellum (cerebellar hypoplasia). A malformation known as the Dandy-Walker syndrome is sometimes present. This involves a partial or complete absence of the cerebellar vermis (the median part of the cerebellum, connecting its two parts), an elevation of the tentorium cerebelli, enlargement of the fourth ventricle, and encephalocele or meningocele (hernias of the brain or its membranes). Deafness is not uncommon.

Children with a large deletion comprising half the long arm of chromosome 13 often have holoprosencephaly, meaning incomplete cleavage of the brain into cerebral and lateral hemispheres. The presence of holoprosencephaly usually indicates loss of chromosome segment 13q32, which is the location of a gene known as ZIC2. This gene is believed to play a vital role in brain development.

A few children with the syndrome also have spina bifida (myelomeningocele).

The skeleton

Some children are born with luxation (dislocation) of the hip joint, clubfoot or vertebral abnormalities. Thumbs may be absent, underdeveloped, or abnormally positioned. The little finger is often short and bent inwards (clinodactyly). Foot and toe defects such as webbed toes (syndactyly) may be present. Hand and foot abnormalities are associated with the loss of chromosome segment 13q32.

Other birth defects

The kidneys may be absent (renal agenesis), malformed (hydronephrosis), or abnormally positioned (ectopic kidneys). The thymus gland, the thyroid, the pancreas, and the adrenal glands are sometimes underdeveloped or absent. Genitalia may be underdeveloped, and the testes in some cases fail to descend into the scrotum in affected males (retention testis). Boys with a deletion of the 13q33.3 band may have hypospadia, meaning that the urethra does not open through the glans of the penis. It is likely that a gene governing the positioning of the urethra is located in this chromosome region.

The anus may be malpositioned or absent (imperforate anus). Children with the syndrome occasionally have Hirschsprung’s disease, characterised by poor intestinal function owing to absent nerve cells. The reason is probably that a gene involved in the formation of intestinal nerve cells is located on chromosome 13. The gall bladder may be missing, and the small intestine is sometimes abnormally narrow. Some children have gastric reflux, a backflow of acid from the stomach into the oesophagus. Vomiting is a common symptom, and the children may fail to thrive. Asthma-like symptoms may present if stomach acid flows into the trachea.

The eyes

About one third of children with 13q deletion syndrome have iris and choroid coloboma, meaning that parts of these eye structures are absent. Strabismus (squinting) is common and many children have nystagmus (involuntary oscillating eye movements). Glaucoma, cataracts, and cloudy lenses are other vision problems associated with the syndrome. In rare cases, eye problems are severe enough to result in blindness.

The syndrome involves an increased risk of developing a malignant tumour in the retina of the eye, a condition known as retinoblastoma. There is a gene that protects against retinoblastoma located on chromosome band 13q14, and a deletion of this section causes an elevated risk of developing the tumour. Children with the mosaic variant of the syndrome are also at risk. Retinoblastoma is generally discovered before the child is four years old, and in most cases the condition is diagnosed early, between the ages of four and six months. The condition normally affects both eyes, but in 13q deletion syndrome only one eye is affected. The prevalence is higher in boys than in girls (2:3).

Other symptoms

Two genes regulating blood coagulation (factor VII and factor X) are located on the tip of the long arm of chromosome 13. In children with a translocation involving this area, the concentration of these coagulation factors may be low. However, there is no indication that the condition increases the risk of bleeding or causes any other problems.

Individuals with 13q deletion syndrome have a shortened life span. The oldest person with the syndrome described in the medical literature had reached the age of 67.


The diagnosis is confirmed by performing a chromosome analysis of cultured blood cells.

Since translocations can be difficult to identify using ordinary chromosome analysis, specialized methods of genetic analysis should be used. The family should be offered genetic counselling, and a chromosome analysis of both parents can be carried out in order to detect if they are carriers of chromosome abnormalities that increases the recurrence risk. If either parent is identified as a carrier, his or her relatives will be offered testing, as they too may be carriers of the abnormality.

Prenatal diagnosis is possible.


There is no cure for 13q deletion syndrome, but symptoms may be relieved and a great deal can be done to compensate for functional limitations.

When a child is diagnosed, an extensive examination is performed in order to identify which symptoms the child is affected by. Most children have symptoms that require the care of specialists from several different areas. Children with 13q deletion syndrome should be followed up continuously by a neurologist and a rehabilitation physician, who can also coordinate interventions by different specialists. The child’s development should be evaluated comprehensively by a psychologist, a physiotherapist, an occupational therapist, and a special education teacher.

If the child fails to thrive owing to feeding difficulties, a nutritionist or speech therapist may provide valuable support and assistance in establishing feeding routines. The child’s growth should be carefully monitored. Growth hormone deficiency is rare, but in cases of extremely short stature hormone production evaluation is recommended.

Early contact with a plastic surgeon is required if the child has cleft palate or a combination of cleft lip, jaw and palate. Cleft deformities are treated over a number of years, as several surgical interventions are required. The results are usually excellent. A paediatric dentist should monitor tooth eruption and assess the need for orthodontic treatment. Tooth enamel defects are treated by covering the teeth with a protective coating.

As congenital heart defects are relatively common, all children with the syndrome should be examined by a paediatric cardiologist. Ultrasonography is used to detect any cardiac anomalies. Heart defects (such as ASD and VSD) normally require surgical intervention. Children with heart anomalies need to be carefully monitored.

Epilepsy is a condition of recurring convulsions caused by sudden surges of electrical activity in the brain. Seizures may take many forms and the diagnosis should specify the type. This is done in an EEG, a brain wave test. The activity of the brain is monitored over a short or extended period of time, either in a neurophysiological laboratory, or over a number of days at a regional paediatric clinic. An MRI scan (magnetic resonance imaging) may also be used to confirm the diagnosis. Evaluation and treatment is carried out by a paediatric neurologist or a habilitation specialist. Normally, epilepsy can be treated medically.

Some children have craniosynostosis, premature closing of the cranial sutures (skull bones). This skull defect inhibits the growth of the brain. Abnormal increase of head circumference is a sign of hydrocephalus. The condition is treated by inserting a shunt, a flexible tube used to divert accumulated cerebrospinal fluid from the brain to the abdominal cavity.

As brain anomalies are common, it is recommended that all children with the syndrome undergo an MR scan between the ages of one and two. Most brain abnormalities cannot be treated, but accurate diagnosis may help explain delayed intellectual development and seizures. Surgery is rarely considered, but may be an option if a minor malformation causes severe seizures that do not respond to treatment.

Spina bifida requires early surgery to close the hernia, and follow ups should be scheduled. Spina bifida is associated with an elevated risk of developing hydrocephalus.

Hip luxation is usually discovered early. The condition is treated with splints, but surgical intervention is sometimes necessary. Clubfoot is evident at birth and is usually successfully treated with splints or a plaster cast, although surgery may be required. Vertebrae abnormalities seldom cause any major problems, but each case must be evaluated individually. Underdeveloped kneecaps rarely pose a problem, but in cases of knee luxation (dislocation), surgical intervention may be necessary. Finger abnormalities are usually minor and of no practical consequence. However, if the thumb is absent or if its position impairs the grip, a hand surgeon should be contacted. Sometimes hand bones or toes have fused, but as these anomalies rarely interfere with hand or foot function, surgery may be considered unnecessary.

Kidney abnormalities and hydronephrosis (backflow of urine into the uterer) should be carefully investigated, and interventions, performed by a paediatric surgeon or urologist, may be necessary. Testes that have failed to descend into the scrotum can also be treated.

Gastrointestinal malformations are investigated by a paediatric surgeon. Anal atresia and atresia of the small intestine are operated on early. In cases of Hirschsprung’s disease, the abnormal part of the colon is removed. The procedure can usually be carried out immediately, but in some cases a temporary colostomy is performed. Umbilical and loin hernias are also treated surgically. In cases of suspected gastric reflux, the oesophagus pH level is monitored for 24 hrs. The condition usually responds well to medical treatment, but surgical intervention is sometimes required.

Eye abnormalities are common, and owing to the risk of retinoblastoma the child should be examined by an ophthalmologist at an early age. Iris coloboma is common, but vision is usually only impaired if the innermost parts of the eye or the optic nerve are affected. Strabismus can be treated with a patch over the normal eye in order to train the squinting eye. Surgery is sometimes required. Nystagmus does not require treatment. Glaucoma patients should be monitored closely and the condition is usually treated with eye drops. Cataracts and opaque lenses require surgical intervention. In cases of severe vision impairment or blindness, a vision consultant and a low vision resource centre should be contacted. If the child has retinoblastoma, the eye is usually replaced by a prosthetic eye. Radiotherapy and chemotherapy are treatment options, and nowadays most children with retinoblastoma are cured.

Assessment by a paediatric endocrinologist is required if hormone-producing organs such as the adrenal glands or the thyroid are underdeveloped or absent. Hormone supplements are sometimes given.

Bleeding problems should be investigated as the child may be deficient in coagulation factors VII and X. A coagulation investigation should also be carried out before surgery.

All children with the syndrome should be examined by an ear specialist or an audiologist.


Early contact should be established with a paediatric rehabilitation centre, bringing together various professionals with experience in working with disabilities. The rehabilitation physician at the centre is responsible for medical care. An occupational therapist evaluates the child’s level of functional disability and assesses the need for aids, equipment and new routines to make daily life easier. A physiotherapist evaluates motor function and can put together a training programme for optimising movement. A rehabilitation counsellor provides support to the family and gives information about national and regional provisions and resources. A speech therapist evaluates and trains language and communication skills, and provides advice on how to cope with swallowing difficulties. A psychologist evaluates and supports the child’s development and is available for counselling to parents and siblings.

Children with intellectual disability should have early access to special education. The child’s individual capacities and limitations should guide the choice of daycare, school and after-school facilities. During the preschool years, a special education teacher and the staff at a play therapy centre will provide access to special toys and other educational resources adapted to the individual needs and interests of the child. As the degree of intellectual disability varies from case to case, it is not possible to give any general advice on which supportive measures should be taken, or how to select a suitable school. It is therefore important to continuously evaluate the child’s developmental level.

Special education should include speech and communication training. Some children learn to speak, while others communicate using sign language or other forms of alternative communication. The occupational therapist, speech therapist, and special education teacher all participate in assessing the need for alternative communication strategies and trying out communication aids.

On learning that a child has a rare chromosomal disorder, many parents undergo an emotional crisis. In this situation, the ability to deal with information about the syndrome and available support is limited. It is therefore vital that the information is repeated on later occasions and that the parents are given time to ask questions and ventilate their concerns. All parents should be offered support from a counsellor or a psychologist in the paediatric rehabilitation services. Parents should also be offered contact with other families in a similar situation who are willing to share their experiences.

Many families use respite care services to be temporarily relieved of tasks associated with caregiving, and to find an opportunity for rest and recreation. The child may then remain in the home with a personal assistant, or stay with a support family or at a short-term respite care facility. The family may need assistance in coordinating various interventions and activities.

Adults with 13q deletion syndrome need continued treatment and support to manage their daily lives, such as specially adapted housing and access to day care services.

Practical advice


National and regional resources in Sweden

Diagnosis, genetic analysis, and genetic counselling are available at the departments of clinical genetics at the university hospitals.

The Swedish Centre for Children and Adolescents with Deformities or Syndromes, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel +46 18 611 59 42, or +46 18 611 30 90.

Resource personnel

Professor Göran Annerén, Department of Clinical Genetics, The Rudbeck Laboratory, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel +46 18 611 59 42 or +46 611 59 40, fax +46 18 55 40 25, email: goran.anneren@akademiska.se.

Specialist nurse Kristina Thorsén, Department of Clinical Genetics, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel +46 18 611 02 43, fax +46 18 55 40 25, email: kristina.thorsen@akademiska.se.

Courses, exchanges of experience, recreation


Organizations for the disabled/patient associations

FUB, The Swedish National Association for Children, Young People and Adults with Intellectual Disabilities. Street address: Gävlevägen 18B. Mailing address: Box 6436, SE-113 82 Stockholm, Sweden. Tel +46 8 508 866 00, fax +46 8 508 866 66, email: fub@fub.se, Internet: www.fub.se.

NOC, The Swedish National Network for Rare Chromosome Disorders is an affiliate of FUB. The Network arranges family meetings for the exchange of information and experience. Internet: www.noc.to, email: info@noc.to.

Courses, exchanges of experience for personnel


Research and development (R&D)


Information material

An information booklet on 13q deletion syndrome, which summarises the information in this database text, is available free of charge from the Publications Department of the Swedish National Board of Health and Welfare (in Swedish only, article number 2003-126-1173). Address: SE-106 30 Stockholm, Sweden. Fax: +46 35 19 75 29, email: publikationsservice@socialstyrelsen.se, or tel: +46 75 247 38 80. Postage will be charged for bulk orders.


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Database references


Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical experts who wrote the draft of this information material are Professor Göran Annerén and Ulrika Wester, MD, Uppsala University Hospital, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2008-12-15
Version: 2.0
Publication date of the Swedish version: 2008-05-19

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 400, SE-405 30 Gothenburg, Sweden, tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.


About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.