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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): Gene(s) directly associated with this condition or phenotype.	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).

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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.

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Protrusio acetabuli

MedGen UID:: 98369
•Concept ID:: C0409495
•: Anatomical Abnormality

Intrapelvic bulging of the medial acetabular wall.

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Ankle flexion contracture

MedGen UID:: 332440
•Concept ID:: C1837407
•: Anatomical Abnormality

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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.

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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).

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Hearing abnormality

MedGen UID:: 871365
•Concept ID:: C4025860
•: Finding

An abnormality of the sensory perception of sound.

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Kyphosis

MedGen UID:: 44042
•Concept ID:: C0022821
•: Anatomical Abnormality

Exaggerated anterior convexity of the thoracic vertebral column.

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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).

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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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.

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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.

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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.

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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.

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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.

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Platyspondyly

MedGen UID:: 335010
•Concept ID:: C1844704
•: Finding

A flattened vertebral body shape with reduced distance between the vertebral endplates.

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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.

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Abnormality of the dentition

MedGen UID:: 78084
•Concept ID:: C0262444
•: Finding

Any abnormality of the teeth.

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Pterygium

MedGen UID:: 46202
•Concept ID:: C0033999
•: Finding

Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.

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Abnormal sclera morphology

MedGen UID:: 871347
•Concept ID:: C4025840
•: Anatomical Abnormality

An abnormality of the sclera.

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Abnormality of head or neck
- Abnormality of the dentition
Abnormality of limbs
Abnormality of the eye
- Abnormal sclera morphology
Abnormality of the integument
- Pterygium
Abnormality of the musculoskeletal system
Ear malformation
- Hearing abnormality
Growth abnormality
- Short stature

Recent clinical studies

Diagnosis

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

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: 38927610 Free PMC Article

Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.

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

Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.

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

The first case of Bruck syndrome associated with gastroschisis.

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

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.

Steinlein OK, Aichinger E, Trucks H, Sander T
BMC Med Genet 2011 Nov 22;12:152. doi: 10.1186/1471-2350-12-152. PMID: 22107750 Free PMC Article

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Therapy

The first case of Bruck syndrome associated with gastroschisis.

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

See all (1)

Prognosis

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.

Kot A, Chun C, Martin JH, Wachtell D, Hudson D, Weis M, Marks H, Srivastava S, Eyre DR, Duran I, Zieba J, Krakow D
J Bone Miner Res 2024 Sep 2;39(9):1240-1252. doi: 10.1093/jbmr/zjae124. PMID: 39088537 Free PMC Article

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

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

See all (2)