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Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures(SEMDJL1)

MedGen UID:
865814
Concept ID:
C4017377
Disease or Syndrome
Synonyms: SEMDJL1; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
 
Gene (location): B3GALT6 (1p36.33)
 
Monarch Initiative: MONDO:0010075
OMIM®: 271640

Definition

Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. [from MONDO]

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).
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Dislocated radial head
MedGen UID:
488814
Concept ID:
C0265563
Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Hip subluxation
MedGen UID:
140946
Concept ID:
C0434785
Injury or Poisoning
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Advanced ossification of carpal bones
MedGen UID:
341422
Concept ID:
C1849292
Finding
Ossification of carpal bones at an abnormally early age.
Broad distal phalanx of finger
MedGen UID:
342551
Concept ID:
C1850630
Finding
Abnormally wide (broad) distal phalanx of finger.
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Anatomical Abnormality
A bending or abnormal curvature of the radius.
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
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
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
Paraplegia
MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
Severe or complete weakness of both lower extremities with sparing of the upper extremities.
Spinal cord compression
MedGen UID:
11549
Concept ID:
C0037926
Disease or Syndrome
External mechanical compression of the spinal cord.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
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).
Radial head subluxation
MedGen UID:
56213
Concept ID:
C0149977
Injury or Poisoning
Partial dislocation of the head of the radius.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Epiphyseal dysplasia
MedGen UID:
95932
Concept ID:
C0392476
Congenital Abnormality
Carpal synostosis
MedGen UID:
98468
Concept ID:
C0431863
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Spondyloepimetaphyseal dysplasia
MedGen UID:
609408
Concept ID:
C0432211
Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Slender long bone
MedGen UID:
331446
Concept ID:
C1833144
Finding
Reduced diameter of a long bone.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
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.
Hypoplastic iliac body
MedGen UID:
376500
Concept ID:
C1849034
Finding
Underdevelopment of the body of ilium.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Flaring of rib cage
MedGen UID:
381496
Concept ID:
C1854780
Finding
The presence of wide, concave anterior rib ends.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Delayed proximal femoral epiphyseal ossification
MedGen UID:
343298
Concept ID:
C1855222
Finding
Developmental delay of ossification of the proximal epiphysis of the femur.
Ovoid vertebral bodies
MedGen UID:
344549
Concept ID:
C1855665
Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Cupped ribs
MedGen UID:
351284
Concept ID:
C1865039
Finding
Wide, concave rib end.
Flared iliac wing
MedGen UID:
356097
Concept ID:
C1865841
Finding
Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
Large iliac wing
MedGen UID:
870184
Concept ID:
C4024618
Finding
Increased size of the ilium ala.
Abnormal rib cage morphology
MedGen UID:
871275
Concept ID:
C4025763
Anatomical Abnormality
A morphological anomaly of the rib cage.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Oval face
MedGen UID:
336480
Concept ID:
C1849025
Finding
A face with a rounded and slightly elongated outline.
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
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.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Long upper lip
MedGen UID:
462845
Concept ID:
C3151495
Finding
Increased width of the upper lip.
Hyperextensible skin
MedGen UID:
66023
Concept ID:
C0241074
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Short nail
MedGen UID:
140850
Concept ID:
C0423808
Finding
Decreased length of nail.
Soft, doughy skin
MedGen UID:
341366
Concept ID:
C1849043
Finding
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Menopause 2021 Sep 1;28(9):973-997. doi: 10.1097/GME.0000000000001831. PMID: 34448749
Knapik JJ, Pope R
J Spec Oper Med 2020 Spring;20(1):125-140. doi: 10.55460/QXTX-A72P. PMID: 32203618
Mueller MM, Van Remoortel H, Meybohm P, Aranko K, Aubron C, Burger R, Carson JL, Cichutek K, De Buck E, Devine D, Fergusson D, Folléa G, French C, Frey KP, Gammon R, Levy JH, Murphy MF, Ozier Y, Pavenski K, So-Osman C, Tiberghien P, Volmink J, Waters JH, Wood EM, Seifried E; ICC PBM Frankfurt 2018 Group
JAMA 2019 Mar 12;321(10):983-997. doi: 10.1001/jama.2019.0554. PMID: 30860564

Recent clinical studies

Etiology

Mick P, Fischer C
Semin Musculoskelet Radiol 2022 Jun;26(3):329-337. Epub 2022 Jun 2 doi: 10.1055/s-0041-1740380. PMID: 35654098
Nicholson JA, Makaram N, Simpson A, Keating JF
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Fischer V, Haffner-Luntzer M, Amling M, Ignatius A
Eur Cell Mater 2018 Jun 22;35:365-385. doi: 10.22203/eCM.v035a25. PMID: 29931664
Hubbard EW, Riccio AI
Orthop Clin North Am 2018 Apr;49(2):195-210. Epub 2017 Dec 14 doi: 10.1016/j.ocl.2017.11.008. PMID: 29499821
Fowler JR, Hughes TB
Clin Sports Med 2015 Jan;34(1):37-50. Epub 2014 Nov 25 doi: 10.1016/j.csm.2014.09.011. PMID: 25455395

Diagnosis

Mick P, Fischer C
Semin Musculoskelet Radiol 2022 Jun;26(3):329-337. Epub 2022 Jun 2 doi: 10.1055/s-0041-1740380. PMID: 35654098
Wildemann B, Ignatius A, Leung F, Taitsman LA, Smith RM, Pesántez R, Stoddart MJ, Richards RG, Jupiter JB
Nat Rev Dis Primers 2021 Aug 5;7(1):57. doi: 10.1038/s41572-021-00289-8. PMID: 34354083
Sabbagh MD, Morsy M, Moran SL
Hand Clin 2019 Aug;35(3):259-269. Epub 2019 May 11 doi: 10.1016/j.hcl.2019.03.002. PMID: 31178084
Hubbard EW, Riccio AI
Orthop Clin North Am 2018 Apr;49(2):195-210. Epub 2017 Dec 14 doi: 10.1016/j.ocl.2017.11.008. PMID: 29499821
Fowler JR, Hughes TB
Clin Sports Med 2015 Jan;34(1):37-50. Epub 2014 Nov 25 doi: 10.1016/j.csm.2014.09.011. PMID: 25455395

Therapy

Imamudeen N, Basheer A, Iqbal AM, Manjila N, Haroon NN, Manjila S
Clin Med Res 2022 Jun;20(2):95-106. Epub 2022 Apr 27 doi: 10.3121/cmr.2021.1612. PMID: 35478096Free PMC Article
Zhao JG, Zeng XT, Wang J, Liu L
JAMA 2017 Dec 26;318(24):2466-2482. doi: 10.1001/jama.2017.19344. PMID: 29279934Free PMC Article
Handoll HH, Elliott J
Cochrane Database Syst Rev 2015 Sep 25;2015(9):CD003324. doi: 10.1002/14651858.CD003324.pub3. PMID: 26403335Free PMC Article
Lin CW, Donkers NA, Refshauge KM, Beckenkamp PR, Khera K, Moseley AM
Cochrane Database Syst Rev 2012 Nov 14;11:CD005595. doi: 10.1002/14651858.CD005595.pub3. PMID: 23152232
Howe TE, Shea B, Dawson LJ, Downie F, Murray A, Ross C, Harbour RT, Caldwell LM, Creed G
Cochrane Database Syst Rev 2011 Jul 6;(7):CD000333. doi: 10.1002/14651858.CD000333.pub2. PMID: 21735380

Prognosis

Ekegren CL, Edwards ER, de Steiger R, Gabbe BJ
Int J Environ Res Public Health 2018 Dec 13;15(12) doi: 10.3390/ijerph15122845. PMID: 30551632Free PMC Article
Dias J, Kantharuban S
Hand Clin 2017 Aug;33(3):501-509. doi: 10.1016/j.hcl.2017.04.003. PMID: 28673626
Court-Brown CM, McQueen MM
J Bone Joint Surg Am 2016 May 4;98(9):e36. doi: 10.2106/JBJS.15.00793. PMID: 27147693
Hak DJ, Fitzpatrick D, Bishop JA, Marsh JL, Tilp S, Schnettler R, Simpson H, Alt V
Injury 2014 Jun;45 Suppl 2:S3-7. doi: 10.1016/j.injury.2014.04.002. PMID: 24857025
Van Staa TP, Leufkens HG, Abenhaim L, Zhang B, Cooper C
J Bone Miner Res 2000 Jun;15(6):993-1000. doi: 10.1359/jbmr.2000.15.6.993. PMID: 10841167

Clinical prediction guides

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J Orthop Surg Res 2019 Feb 28;14(1):68. doi: 10.1186/s13018-019-1100-6. PMID: 30819222Free PMC Article
Estrada A, Ramnitz MS, Gafni RI
Curr Opin Obstet Gynecol 2014 Oct;26(5):339-46. doi: 10.1097/GCO.0000000000000100. PMID: 25144595
Bachmann LM, Kolb E, Koller MT, Steurer J, ter Riet G
BMJ 2003 Feb 22;326(7386):417. doi: 10.1136/bmj.326.7386.417. PMID: 12595378Free PMC Article
Marshall D, Johnell O, Wedel H
BMJ 1996 May 18;312(7041):1254-9. doi: 10.1136/bmj.312.7041.1254. PMID: 8634613Free PMC Article

Recent systematic reviews

Yao P, Bennett D, Mafham M, Lin X, Chen Z, Armitage J, Clarke R
JAMA Netw Open 2019 Dec 2;2(12):e1917789. doi: 10.1001/jamanetworkopen.2019.17789. PMID: 31860103Free PMC Article
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JAMA 2017 Dec 26;318(24):2466-2482. doi: 10.1001/jama.2017.19344. PMID: 29279934Free PMC Article
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BMJ 2015 Sep 29;351:h4580. doi: 10.1136/bmj.h4580. PMID: 26420387Free PMC Article
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Cochrane Database Syst Rev 2015 Sep 25;2015(9):CD003324. doi: 10.1002/14651858.CD003324.pub3. PMID: 26403335Free PMC Article
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