|
|
| Line 1: |
Line 1: |
| {{Infobox medical condition (new) | | {{Short description|A rare genetic disorder}} |
| | name = Genitopatellar syndrome
| | {{Medical resources}} |
| | synonyms = Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome<ref>{{cite web |last1=RESERVED |first1=INSERM US14-- ALL RIGHTS |title=Orphanet: Genitopatellar syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 |website=www.orpha.net |accessdate=15 March 2019 |language=en}}</ref>
| |
| | image =
| |
| | caption =
| |
| | pronounce =
| |
| | field =
| |
| | symptoms =
| |
| | complications =
| |
| | onset =
| |
| | duration =
| |
| | types =
| |
| | causes =
| |
| | risks =
| |
| | diagnosis =
| |
| | differential =
| |
| | prevention =
| |
| | treatment =
| |
| | medication =
| |
| | prognosis =
| |
| | frequency =
| |
| | deaths =
| |
| }}
| |
| '''Genitopatellar syndrome''' is a [[Rare disease|rare disorder]] with characteristic craniofacial features, congenital flexion contractures of the lower limbs, absent or abnormal patellae, urogenital anomalies, and severe psychomotor retardation.<ref>{{cite journal|last=Penttinen|first=Maila|author2=Koillinen Hannele |author3=Niinikoski Harri |author4=Mäkitie Outi |author5=Hietala Marja |date=Mar 2009|title='''Genitopatellar syndrome''' in an adolescent female with severe osteoporosis and endocrine abnormalities|journal=[[Am. J. Med. Genet. A]]|volume=149A|issue=3|pages=451–5| pmid = 19208376| doi = 10.1002/ajmg.a.32644 }}</ref>
| |
| In 2012, it was shown that mutations in the gene [[KAT6B]] cause the syndrome.<ref>{{cite journal|vauthors = Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH|date=Jan 2012|title=Mutations in '''KAT6B''', Encoding a Histone Acetyltransferase, Cause '''Genitopatellar Syndrome'''|journal=[[American Journal of Human Genetics]]|volume=90|issue=2|pages=282–9| pmid = 22265014| doi = 10.1016/j.ajhg.2011.11.023 |pmc=3276659 }}</ref>
| |
|
| |
|
| ==Signs and symptoms==
| | '''Genitopatellar syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[genitourinary]] anomalies, [[patellar]] hypoplasia or aplasia, and other distinctive features. It is a congenital condition, meaning it is present at birth, and is associated with mutations in the [[KAT6B]] gene. |
| Genitopatellar syndrome is characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability and abnormalities affecting other parts of the body. It is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have an unusually small head (microcephaly) and structural brain abnormalities, including [[agenesis of the corpus callosum]].<ref name="ncbi">{{Cite book | chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK114806/ | title=GeneReviews®| chapter=KAT6B-Related Disorders| publisher=University of Washington, Seattle| year=1993}}</ref> | |
|
| |
|
| Major features include:<ref name="ncbi" />
| | ==Presentation== |
| | Individuals with genitopatellar syndrome typically present with a variety of clinical features. These may include: |
|
| |
|
| * Patellar hypoplasia/agenesis | | * '''Genitourinary anomalies''': These can include [[cryptorchidism]] (undescended testes) in males, and other abnormalities of the [[genitalia]] and [[urinary tract]]. |
| * Flexion contractures at the hips and knees (including club feet) | | * '''Patellar hypoplasia or aplasia''': The [[patella]]e (kneecaps) may be underdeveloped or absent, leading to difficulties with [[mobility]] and [[joint]] function. |
| * Agenesis of the [[corpus callosum]] with [[microcephaly]] | | * '''Craniofacial dysmorphism''': Distinctive facial features may be present, such as a prominent forehead, hypertelorism (wide-set eyes), and a broad nasal bridge. |
| * Hydronephrosis and/or multiple kidney cysts
| | * '''Intellectual disability''': Many individuals with this syndrome have some degree of [[intellectual disability]] or developmental delay. |
| | * '''Skeletal anomalies''': These can include joint contractures, hip dislocation, and other skeletal abnormalities. |
| | * '''Other features''': Additional features may include [[congenital heart defects]], [[renal]] anomalies, and [[gastrointestinal]] issues. |
|
| |
|
| Minor features include:<ref name="ncbi" />
| | ==Genetics== |
| | | Genitopatellar syndrome is caused by mutations in the [[KAT6B]] gene, which is located on [[chromosome]] 10. The KAT6B gene provides instructions for making a protein that is involved in regulating the activity of other genes, particularly during development. Mutations in this gene disrupt normal development, leading to the features of genitopatellar syndrome. |
| * Dental anomalies (delayed eruption of teeth)
| |
| * Hearing loss
| |
| * Thyroid anomalies
| |
| * Anal anomalies
| |
| * [[Hypotonia]]
| |
| * Global developmental delay/[[intellectual disability]]
| |
| | |
| ==Cause== | |
| Genitopatellar syndrome is inherited in an [[Dominance (genetics)|autosomal dominant]] fashion. The mutation responsible for the syndrome occurs in the [[KAT6B]] gene. This gene is located on the long arm of [[chromosome 10]] (10q22.2). | |
| | |
| The KAT6B gene gene product is an [[enzyme]] called [[histone acetyltransferase]] which functions in regulating and making of [[histone]] which are proteins that attach to [[DNA]] and give the [[chromosome]]s their shape. The function of histone [[acetyltransferase]] produced from KAT6B is unknown but it is considered as a regulator of early development. There is little known about how the mutation in the KAT6B causes the syndrome but researchers suspects that the mutations occur near the end of the KAT6B gene and causes it to produce shortened acetyltransferase enzyme. The shortened enzyme alters the regulation of other genes. On the other hand, the mutation of KAT6B leading to the specific features of genitopatellar syndrome is still not surely proven.<ref>{{Cite web | url=http://ghr.nlm.nih.gov/condition/genitopatellar-syndrome | title=Genitopatellar syndrome}}</ref> | |
|
| |
|
| ==Diagnosis== | | ==Diagnosis== |
| Even though clinical diagnostic criteria have not been 100 percent defined for genitopatellar syndrome, the researchers stated that the certain physical features could relate to KAT6B mutation and result in the molecular genetic testing. The researchers stated that the Individuals with two major features or one major feature and two minor features are likely to have a KAT6B mutation.
| | Diagnosis of genitopatellar syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the KAT6B gene. Prenatal diagnosis may be possible if the mutation is known in the family. |
| To diagnose the Genitopatellar Syndrome, there are multiple ways to evaluate.
| |
| Medical genetics consultation
| |
| *Evaluation by developmental specialist
| |
| *Feeding evaluation
| |
| *Baseline hearing evaluation
| |
| *Thyroid function tests
| |
| *Evaluation of males for [[cryptorchidism]]
| |
| *Orthopedic evaluation if [[contracture]]s are present or feet/ankles are malpositioned
| |
| *Hip X-rays to evaluate for femoral head dislocation
| |
| *Kidney [[ultrasound]] examination for [[hydronephrosis]] and cysts
| |
| *[[Echocardiogram]] for congenital heart defects
| |
| *Evaluation for [[laryngomalacia]] if respiratory issues are present
| |
| *Evaluation by [[gastroenterologist]] as needed, particularly if bowel malrotation is suspected
| |
| <ref name="ncbi" />
| |
|
| |
|
| ==Treatment== | | ==Management== |
| There is no cure for genitopatellar syndrome. However, there are treatments for the different symptoms. For the developmental symptoms, Educational intervention and speech therapy beginning in infancy could help to reduce the high risk for motor, cognitive, speech, and language delay. For the skeletal features, referral to an [[orthopedist]] for consideration of surgical release of contractures. In addition, early referral to physical therapy could help increase joint mobility. Lastly, thyroid hormone replacement could help out the thyroid dysfunction.<ref name="ncbi" />
| | Management of genitopatellar syndrome is symptomatic and supportive. It may involve a multidisciplinary team of specialists, including [[pediatricians]], [[orthopedic surgeons]], [[urologists]], and [[genetic counselors]]. |
|
| |
|
| ==History==
| | * '''Orthopedic management''': This may include physical therapy, bracing, or surgical interventions to address joint and skeletal issues. |
| In 1988, Goldblatt et al. first reported a 4-year-old boy with hypoplastic patellae, mental retardation, scrotal hypoplasia, skeletal deformities, kidney anomalies, flattened nasal bridge, and short stature. Later in 2000, Cormier-Daire et al. reported seven patients with genital anomalies (scrotal hypoplasia and cryptorchidism in the boys and clitoral hypertrophy in the girls), facial dysmorphism, kidney anomalies, absent patellae, and severe mental retardation in the two survivors. The condition is now known as genitopatellar syndrome.<ref>{{Cite web | url=http://www.springerreference.com/docs/html/chapterdbid/313486.html/ | title=SpringerReference - Meteor}}</ref>
| | * '''Urological management''': Surgical correction of genitourinary anomalies may be necessary. |
| | * '''Developmental support''': Early intervention programs and special education services can help address developmental delays and intellectual disabilities. |
|
| |
|
| ==See also== | | ==Prognosis== |
| | The prognosis for individuals with genitopatellar syndrome varies depending on the severity of the features and the presence of associated complications. With appropriate management, many individuals can achieve a good quality of life. |
|
| |
|
| * [[Young-Simpson syndrome|Say-Barber-Biesecker-Young-Simpson syndrome]] | | ==Related pages== |
| | * [[Genetic disorder]] |
| | * [[KAT6B]] |
| | * [[Congenital disorder]] |
| | * [[Orthopedic surgery]] |
|
| |
|
| ==References==
| | [[Category:Genetic disorders]] |
| {{reflist}}
| | [[Category:Congenital disorders]] |
| == External links ==
| | [[Category:Rare diseases]] |
| {{Medical resources
| |
| | DiseasesDB = 35131
| |
| | ICD10 = Q87.8
| |
| | ICD9 =
| |
| | ICDO =
| |
| | OMIM = 606170
| |
| | MedlinePlus =
| |
| | eMedicineSubj =
| |
| | eMedicineTopic =
| |
| | MeshID =
| |
| | Orphanet = 85201
| |
| }}
| |
| {{rarediseases}}
| |
| [[Category:Rare syndromes]] | |
| [[Category:Syndromes affecting the kidneys]] | |
| [[Category:Syndromes affecting head size]] | |
| {{No image}}
| |
A rare genetic disorder
Genitopatellar syndrome is a rare genetic disorder characterized by a combination of genitourinary anomalies, patellar hypoplasia or aplasia, and other distinctive features. It is a congenital condition, meaning it is present at birth, and is associated with mutations in the KAT6B gene.
Presentation
Individuals with genitopatellar syndrome typically present with a variety of clinical features. These may include:
- Genitourinary anomalies: These can include cryptorchidism (undescended testes) in males, and other abnormalities of the genitalia and urinary tract.
- Patellar hypoplasia or aplasia: The patellae (kneecaps) may be underdeveloped or absent, leading to difficulties with mobility and joint function.
- Craniofacial dysmorphism: Distinctive facial features may be present, such as a prominent forehead, hypertelorism (wide-set eyes), and a broad nasal bridge.
- Intellectual disability: Many individuals with this syndrome have some degree of intellectual disability or developmental delay.
- Skeletal anomalies: These can include joint contractures, hip dislocation, and other skeletal abnormalities.
- Other features: Additional features may include congenital heart defects, renal anomalies, and gastrointestinal issues.
Genetics
Genitopatellar syndrome is caused by mutations in the KAT6B gene, which is located on chromosome 10. The KAT6B gene provides instructions for making a protein that is involved in regulating the activity of other genes, particularly during development. Mutations in this gene disrupt normal development, leading to the features of genitopatellar syndrome.
Diagnosis
Diagnosis of genitopatellar syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the KAT6B gene. Prenatal diagnosis may be possible if the mutation is known in the family.
Management
Management of genitopatellar syndrome is symptomatic and supportive. It may involve a multidisciplinary team of specialists, including pediatricians, orthopedic surgeons, urologists, and genetic counselors.
- Orthopedic management: This may include physical therapy, bracing, or surgical interventions to address joint and skeletal issues.
- Urological management: Surgical correction of genitourinary anomalies may be necessary.
- Developmental support: Early intervention programs and special education services can help address developmental delays and intellectual disabilities.
Prognosis
The prognosis for individuals with genitopatellar syndrome varies depending on the severity of the features and the presence of associated complications. With appropriate management, many individuals can achieve a good quality of life.
Related pages
