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Genitopatellar syndrome(GTPTS)

MedGen UID:
381208
Concept ID:
C1853566
Disease or Syndrome
Synonyms: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION; GTPTS; KAT6B-Related Disorders
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Genitopatellar syndrome (702367005)
 
Gene (location): KAT6B (10q22.2)
OMIM®: 606170
Orphanet: ORPHA85201

Definition

Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by Penttinen et al., 2009). The SBBYS variant of Ohdo syndrome (603736) is an allelic disorder with overlapping features. [from OMIM]

Additional description

From GHR
Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdevelopment of the scrotum. Affected females can have an enlarged clitoris (clitoromegaly) and small labia.Missing or underdeveloped patellae is the most common skeletal abnormality associated with genitopatellar syndrome. Affected individuals may have additional skeletal problems, including joint deformities (contractures) involving the hips and knees or an inward- and upward-turning foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and pelvis have also been reported.Genitopatellar syndrome is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have an usually small head (microcephaly) and structural brain abnormalities, including underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum).People with genitopatellar syndrome may have distinctive facial features such as prominent cheeks and eyes, a nose with a rounded tip or a broad bridge, an unusually small chin (micrognathia) or a chin that protrudes (prognathism), and a narrowing of the head at the temples. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The condition can also be associated with abnormalities of the heart, kidneys, and teeth.  http://ghr.nlm.nih.gov/condition/genitopatellar-syndrome

Clinical features

Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Clitoral hypertrophy
MedGen UID:
57848
Concept ID:
C0156394
Finding
Hypertrophy of the clitoris.
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Hypoplasia of scrotum
MedGen UID:
98138
Concept ID:
C0431659
Finding
Apparently small scrotum for age.
Multicystic kidney
MedGen UID:
811388
Concept ID:
C3714581
Disease or Syndrome
A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.
Abnormality of female external genitalia
MedGen UID:
867445
Concept ID:
C4021822
Anatomical Abnormality
An abnormality of the female external genitalia.
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21.
Radioulnar synostosis
MedGen UID:
57861
Concept ID:
C0158761
Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Dislocation of patellofemoral joint
MedGen UID:
253896
Concept ID:
C1135812
Injury or Poisoning
Displacement of the PATELLA from the femoral groove.
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Patellar aplasia
MedGen UID:
401474
Concept ID:
C1868578
Finding
Absence of the patella.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Colpocephaly
MedGen UID:
98131
Concept ID:
C0431384
Congenital Abnormality
Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability, progressive
MedGen UID:
337397
Concept ID:
C1846149
Finding
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Periventricular neuronal heterotopia
MedGen UID:
376534
Concept ID:
C1849173
Disease or Syndrome
A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.
Hypoplasia or absence of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Congenital Abnormality
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Aplasia/Hypoplasia of the lungs
MedGen UID:
870548
Concept ID:
C4024996
Finding
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Arthrogryposis
MedGen UID:
2455
Concept ID:
C0003886
Finding
A non-progressive finding characterized by multiple joint contractures found throughout the body at birth.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Arthrogryposis
MedGen UID:
2455
Concept ID:
C0003886
Finding
A non-progressive finding characterized by multiple joint contractures found throughout the body at birth.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Radioulnar synostosis
MedGen UID:
57861
Concept ID:
C0158761
Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Dislocation of patellofemoral joint
MedGen UID:
253896
Concept ID:
C1135812
Injury or Poisoning
Displacement of the PATELLA from the femoral groove.
Hypoplastic inferior pubic rami
MedGen UID:
381210
Concept ID:
C1853573
Finding
Hypoplastic ischia
MedGen UID:
347146
Concept ID:
C1859447
Finding
Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
Patellar aplasia
MedGen UID:
401474
Concept ID:
C1868578
Finding
Absence of the patella.
Abnormality of pelvic girdle bone morphology
MedGen UID:
866545
Concept ID:
C4020847
Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Late tooth eruption
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Downward slant of palpebral fissure
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Large nose
MedGen UID:
98423
Concept ID:
C0426415
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Wide nose
MedGen UID:
140869
Concept ID:
C0426421
Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of head hairs per unit area.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Abnormal nasal morphology
MedGen UID:
870795
Concept ID:
C4025252
Anatomical Abnormality
Arthrogryposis
MedGen UID:
2455
Concept ID:
C0003886
Finding
A non-progressive finding characterized by multiple joint contractures found throughout the body at birth.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Hair that is fine or thin to the touch.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of head hairs per unit area.
Abnormal hair quantity
MedGen UID:
868983
Concept ID:
C4023397
Anatomical Abnormality
An abnormal amount of hair.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenitopatellar syndrome
Follow this link to review classifications for Genitopatellar syndrome in Orphanet.

Recent clinical studies

Etiology

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. [Epub ahead of print] PMID: 25424711Free PMC Article
Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G
Am J Med Genet A 2013 Apr;161A(4):884-8. Epub 2013 Feb 22 doi: 10.1002/ajmg.a.35848. [Epub ahead of print] PMID: 23436491
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV
Clin Genet 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. PMID: 16143015

Diagnosis

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. [Epub ahead of print] PMID: 25424711Free PMC Article
Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G
Am J Med Genet A 2013 Apr;161A(4):884-8. Epub 2013 Feb 22 doi: 10.1002/ajmg.a.35848. [Epub ahead of print] PMID: 23436491
Brugha R, Kinali M, Aminu K, Bridges N, Holder SE
Clin Dysmorphol 2011 Jul;20(3):163-5. doi: 10.1097/MCD.0b013e328345a1dd. PMID: 21412151
Bergmann C, Spranger S, Javaher P, Ptok M
Oral Maxillofac Surg 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. PMID: 20182757
Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B
Am J Med Genet A 2007 May 15;143A(10):1071-81. doi: 10.1002/ajmg.a.31685. PMID: 17431898

Prognosis

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. [Epub ahead of print] PMID: 25424711Free PMC Article
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC
Am J Hum Genet 2012 Feb 10;90(2):290-4. Epub 2012 Jan 19 doi: 10.1016/j.ajhg.2011.11.024. [Epub ahead of print] PMID: 22265017Free PMC Article

Clinical prediction guides

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. [Epub ahead of print] PMID: 25424711Free PMC Article
Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH
Am J Med Genet A 2014 Apr;164A(4):950-7. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36379. [Epub ahead of print] PMID: 24458743Free PMC Article
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC
Am J Hum Genet 2012 Feb 10;90(2):290-4. Epub 2012 Jan 19 doi: 10.1016/j.ajhg.2011.11.024. [Epub ahead of print] PMID: 22265017Free PMC Article
Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M
J Med Genet 2000 Jul;37(7):520-4. PMID: 10882755Free PMC Article

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