Genitopatellar syndrome

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10994

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Childhood

ICD-10

Q87.8

Inheritance

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.

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.

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

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.

Not applicable

Other names (AKA)

GTPTS; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Summary

Genitopatellar syndome (GPS) is a genetic condition which affects different parts of the body. The most common signs and symptoms (features) of GPS include abnormal genitals (for boys, undescended testicles and underdeveloped scrotum; for girls, small labia and large clitoris), missing or underdeveloped kneecaps (patellae), stiff large joints with limited movement (such as contractures of hips and knees or clubfoot), developmental delay, and intellectual disabilities. Other features may include missing the structure that connects the two sides of the brain (agenesis of the corpus callosum), swelling of the kidney due to build up of urine (hydronephrosis) and congenital heart defects (the baby's heart did not form normally). Thyroid problems have been reported in some cases.^[1]^[2]

Genitopatellar syndrome (GPS) is caused by changes or mutations in the KAT6B gene..^[1]^[2]^[3] Diagnosis of GPS is usually suspected by the signs and symptoms (features) seen in the child. It is confirmed by genetic testing. There is no cure for GPS. Treatment focuses on the features present in each child and may include surgery (for example to correct heart defects or clubfoot), speech therapy, physical therapy (to increase range of motion of joints), and early childhood intervention and special education programs (for developmental delays and intellectual disability).^[3]

As of 2016, medical researchers are trying to decide if genitopatellar syndrome (GPS) is a separate syndrome from Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS). Both syndromes are caused by changes (mutations) in the same gene (KAT6B). The two syndromes also share a lot of the same features, and some children with mutations in KAT6B gene have a combination of features that fall in between the GPS and SBBYSS. This suggests that GPS and SBBYSS may be two ends of a spectrum of the same syndrome..^[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.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

MedlinePlus Genetics contains information on Genitopatellar syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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 Genitopatellar syndrome. Click on the link to view a sample search on this topic.

References

Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, and Szemes T. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. Clin Genet. July 25 2016; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/27452416.
Gannon T, Perveen R, Schlecht H, et al. Further delineation of the KAT6B molecular and phenotypic spectrum. European Journal of Human Genetics. 2015; 23(9):1165-70. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351891.
Campeau PM and Lee BH. KAT6B-Related Disorders. GeneReviews. January 10 2013; https://www.ncbi.nlm.nih.gov/books/NBK114806.

Rare Dermatology News

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Arthrogryposis multiplex congenita		0002804
Clitoral hypertrophy	Enlarged clitoris	0008665
Coarse facial features	Coarse facial appearance	0000280
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Global developmental delay		0001263
Hip contracture		0003273
Hydronephrosis		0000126
Hypoplastic ilia		0000946
Hypoplastic ischia		0003175
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Knee flexion contracture		0006380
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Multicystic kidney dysplasia		0000003
Patellar aplasia	Absent kneecap	0006443
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
Prominent nose	Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ]	0000448
Scrotal hypoplasia	Smaller than typical growth of scrotum	0000046
Short palm		0004279
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
30%-79% of people have these symptoms
Agenesis of corpus callosum		0001274
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
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
Fine hair	Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ]	0002213
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Long philtrum		0000343
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Seizure		0001250
Sparse scalp hair	Reduced/lack of hair on scalp Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ]	0002209
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
5%-29% of people have these symptoms
Apnea		0002104
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
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Pulmonary hypoplasia	Small lung Underdeveloped lung [ more ]	0002089
Radioulnar synostosis	Fused forearm bones	0002974
Short stature	Decreased body height Small stature [ more ]	0004322
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Brachydactyly	Short fingers or toes	0001156
Colpocephaly		0030048
Congenital hip dislocation	Dislocated hip since birth	0001374
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Enlarged labia minora		0008683
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypoplastic inferior pubic rami		0008823
Intellectual disability, progressive	Mental retardation, progressive Progressive mental retardation [ more ]	0006887
Laryngomalacia	Softening of voice box tissue	0001601
Micropenis	Short penis Small penis [ more ]	0000054

Rare Dermatology News

Rare Dermatology News

Childhood

Q87.8

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

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.

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.

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

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Diagnosis

Testing Resources

Learn more

Where to Start

In-Depth Information

References

Rare Dermatology News

Rare Dermatology News

Childhood

Q87.8

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

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.

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.

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

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Diagnosis

Testing Resources

Learn more

Where to Start

In-Depth Information

References

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.

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