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Bruck syndrome 1(BRKS1)

MedGen UID:
342431
Concept ID:
C1850168
Disease or Syndrome
Synonyms: Arthrogryposis-like disorder; BRKS1; Kuskokwim disease
 
Gene (location): FKBP10 (17q21.2)
 
Monarch Initiative: MONDO:0009806
OMIM®: 259450

Definition

Bruck syndrome-1 (BRKS1) is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (BRKS2; 609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome. [from OMIM]

Additional description

From MedlinePlus Genetics
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of Alaska Natives known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta.

In Kuskokwim syndrome, contractures most commonly affect the knees, ankles, and elbows, although other joints, particularly of the lower body, can be affected. The contractures are usually present at birth and worsen during childhood. They tend to stabilize after childhood, and they remain throughout life.

Some individuals with this condition have other bone abnormalities, most commonly affecting the spine, pelvis, and feet. Affected individuals can develop an inward curve of the lower back (lordosis), a spine that curves to the side (scoliosis), wedge-shaped spinal bones, or an abnormality of the collarbones (clavicles) described as clubbing. Affected individuals are typically shorter than their peers and they may have an abnormally large head (macrocephaly).  https://medlineplus.gov/genetics/condition/kuskokwim-syndrome

Clinical features

From HPO
Clubfoot
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).
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Ankle flexion contracture
MedGen UID:
332440
Concept ID:
C1837407
Anatomical Abnormality
Coxa vara
MedGen UID:
1790477
Concept ID:
C5551440
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hearing abnormality
MedGen UID:
871365
Concept ID:
C4025860
Finding
An abnormality of the sensory perception of sound.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Vertebral wedging
MedGen UID:
120495
Concept ID:
C0264112
Anatomical Abnormality
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Pterygium
MedGen UID:
46202
Concept ID:
C0033999
Finding
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Abnormal sclera morphology
MedGen UID:
871347
Concept ID:
C4025840
Anatomical Abnormality
An abnormality of the sclera.

Recent clinical studies

Diagnosis

Merkuryeva ES, Markova TV, Kenis VM, Agranovich OE, Dan IM, Kotalevskaya YY, Shchagina OA, Ryzhkova OP, Fomenko SS, Dadali EL, Kutsev SI
Genes (Basel) 2024 May 23;15(6) doi: 10.3390/genes15060674. PMID: 38927610Free PMC Article
Tauseef U, Ibrahim M, Noor N, Hanif M
J Ayub Med Coll Abbottabad 2023 Apr-Jun;35(2):341-347. doi: 10.55519/JAMC-02-11056. PMID: 37422836
Menezes AH, Traynelis VC
Childs Nerv Syst 2022 Feb;38(2):361-377. Epub 2021 Nov 22 doi: 10.1007/s00381-021-05409-z. PMID: 34806157
Afşarlar ÇE, Peltek-Kendirci HN, Erdoğan D, Özgüner İF, Çavuşoğlu YH, Karaman A, Çetinkaya S
Turk J Pediatr 2013 Nov-Dec;55(6):651-4. PMID: 24577988
Steinlein OK, Aichinger E, Trucks H, Sander T
BMC Med Genet 2011 Nov 22;12:152. doi: 10.1186/1471-2350-12-152. PMID: 22107750Free PMC Article

Therapy

Afşarlar ÇE, Peltek-Kendirci HN, Erdoğan D, Özgüner İF, Çavuşoğlu YH, Karaman A, Çetinkaya S
Turk J Pediatr 2013 Nov-Dec;55(6):651-4. PMID: 24577988

Prognosis

Setijowati ED, van Dijk FS, Cobben JM, van Rijn RR, Sistermans EA, Faradz SM, Kawiyana S, Pals G
Eur J Med Genet 2012 Jan;55(1):17-21. Epub 2011 Oct 24 doi: 10.1016/j.ejmg.2011.10.002. PMID: 22085994

Clinical prediction guides

Merkuryeva ES, Markova TV, Kenis VM, Agranovich OE, Dan IM, Kotalevskaya YY, Shchagina OA, Ryzhkova OP, Fomenko SS, Dadali EL, Kutsev SI
Genes (Basel) 2024 May 23;15(6) doi: 10.3390/genes15060674. PMID: 38927610Free PMC Article
Menezes AH, Traynelis VC
Childs Nerv Syst 2022 Feb;38(2):361-377. Epub 2021 Nov 22 doi: 10.1007/s00381-021-05409-z. PMID: 34806157

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