U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Sclerosteosis 1(SOST1)

MedGen UID:
1642815
Concept ID:
C4551483
Disease or Syndrome
Synonyms: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY; SOST1
 
Gene (location): SOST (17q21.31)
 
Monarch Initiative: MONDO:0010016
OMIM®: 269500

Definition

SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease, both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to bossing of the forehead and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensory hearing loss (8th cranial nerve). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual, but not unprecedented. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent; life span appears to be normal. [from GeneReviews]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Irregular menstruation
MedGen UID:
56379
Concept ID:
C0156404
Finding
Abnormally high variation in the amount of time between periods.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
2-3 finger syndactyly
MedGen UID:
96573
Concept ID:
C0432055
Congenital Abnormality
Syndactyly with fusion of fingers two and three.
Deviation of finger
MedGen UID:
1680949
Concept ID:
C4759671
Anatomical Abnormality
Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Increased intracranial pressure
MedGen UID:
56241
Concept ID:
C0151740
Finding
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Broad clavicles
MedGen UID:
98091
Concept ID:
C0426801
Finding
Increased width (cross-sectional diameter) of the clavicles.
Large sella turcica
MedGen UID:
334811
Concept ID:
C1843677
Finding
An abnormal enlargement of the sella turcica.
Broad ribs
MedGen UID:
336390
Concept ID:
C1848654
Finding
Increased width of ribs
Facial palsy secondary to cranial hyperostosis
MedGen UID:
376549
Concept ID:
C1849260
Finding
Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.
Sclerotic scapulae
MedGen UID:
336559
Concept ID:
C1849263
Finding
Increased density of the bony tissue of the scapula.
Cortically dense long tubular bones
MedGen UID:
338643
Concept ID:
C1849276
Finding
Increased density of the compact bone of long bone.
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.
Abnormal 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.
Sclerotic vertebral endplates
MedGen UID:
1642576
Concept ID:
C4551970
Finding
Sclerosis (increased density) affecting vertebral end plates.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Tooth malposition
MedGen UID:
377692
Concept ID:
C1852504
Finding
Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.
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.
Large face
MedGen UID:
411263
Concept ID:
C2748652
Finding
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
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.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
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 (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Papilledema
MedGen UID:
10565
Concept ID:
C0030353
Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Blurred vision
MedGen UID:
91020
Concept ID:
C0344232
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Hofmeyr LM, Hamersma H
Curr Opin Otolaryngol Head Neck Surg 2004 Oct;12(5):393-7. doi: 10.1097/01.moo.0000134441.84110.9e. PMID: 15377950

Recent clinical studies

Etiology

Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S
Sci Rep 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. PMID: 37640745Free PMC Article
Diamond KM, Burtner AE, Siddiqui D, Alvarado K, Leake S, Rolfe S, Zhang C, Kwon RY, Maga AM
J Anat 2023 Jul;243(1):66-77. Epub 2023 Mar 1 doi: 10.1111/joa.13847. PMID: 36858797Free PMC Article
Larsson S
Injury 2016 Jan;47 Suppl 1:S31-5. doi: 10.1016/S0020-1383(16)30008-0. PMID: 26768288
Canalis E
Nat Rev Endocrinol 2013 Oct;9(10):575-83. Epub 2013 Aug 13 doi: 10.1038/nrendo.2013.154. PMID: 23938284
Hofmeyr LM, Hamersma H
Curr Opin Otolaryngol Head Neck Surg 2004 Oct;12(5):393-7. doi: 10.1097/01.moo.0000134441.84110.9e. PMID: 15377950

Diagnosis

Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S
Sci Rep 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. PMID: 37640745Free PMC Article
Diamond KM, Burtner AE, Siddiqui D, Alvarado K, Leake S, Rolfe S, Zhang C, Kwon RY, Maga AM
J Anat 2023 Jul;243(1):66-77. Epub 2023 Mar 1 doi: 10.1111/joa.13847. PMID: 36858797Free PMC Article
Tobias JH, Duncan EL, Kague E, Hammond CL, Gregson CL, Bassett D, Williams GR, Min JL, Gaunt TR, Karasik D, Ohlsson C, Rivadeneira F, Edwards JR, Hannan FM, Kemp JP, Gilbert SJ, Alonso N, Hassan N, Compston JE, Ralston SH
Front Endocrinol (Lausanne) 2020;11:630875. Epub 2021 Feb 15 doi: 10.3389/fendo.2020.630875. PMID: 33658983Free PMC Article
Hofmeyr LM, Hamersma H
Curr Opin Otolaryngol Head Neck Surg 2004 Oct;12(5):393-7. doi: 10.1097/01.moo.0000134441.84110.9e. PMID: 15377950
Nager GT, Stein SA, Dorst JP, Holliday MJ, Kennedy DW, Diehn KW, Jabs EW
Am J Otolaryngol 1983 Jan-Feb;4(1):1-17. doi: 10.1016/s0196-0709(83)80002-7. PMID: 6673595

Therapy

Wen J, Bao M, Tang M, He X, Yao X, Li L
Aging (Albany NY) 2021 Apr 22;13(8):12031-12045. doi: 10.18632/aging.202907. PMID: 33888646Free PMC Article
Tanaka S, Matsumoto T
J Bone Miner Metab 2021 May;39(3):332-340. Epub 2020 Nov 18 doi: 10.1007/s00774-020-01176-0. PMID: 33206222
Canalis E
Nat Rev Endocrinol 2013 Oct;9(10):575-83. Epub 2013 Aug 13 doi: 10.1038/nrendo.2013.154. PMID: 23938284
Costa AG, Bilezikian JP
Curr Osteoporos Rep 2012 Mar;10(1):64-72. doi: 10.1007/s11914-011-0089-5. PMID: 22234741

Prognosis

Huybrechts Y, Boudin E, Hendrickx G, Steenackers E, Hamdy N, Mortier G, Martínez Díaz-Guerra G, Bracamonte MS, Appelman-Dijkstra NM, Van Hul W
Genes (Basel) 2021 Dec 28;13(1) doi: 10.3390/genes13010080. PMID: 35052419Free PMC Article
Whyte MP, Deepak Amalnath S, McAlister WH, Pedapati R, Muthupillai V, Duan S, Huskey M, Bijanki VN, Mumm S
Bone 2018 Nov;116:321-332. Epub 2018 Aug 2 doi: 10.1016/j.bone.2018.07.022. PMID: 30077757
van Lierop AH, Hamdy NA, van Egmond ME, Bakker E, Dikkers FG, Papapoulos SE
J Bone Miner Res 2013 Apr;28(4):848-54. doi: 10.1002/jbmr.1794. PMID: 23074140
Hofmeyr LM, Hamersma H
Curr Opin Otolaryngol Head Neck Surg 2004 Oct;12(5):393-7. doi: 10.1097/01.moo.0000134441.84110.9e. PMID: 15377950

Clinical prediction guides

Schwarze UY, Dobsak T, Gruber R, Bookstein FL
Anat Rec (Hoboken) 2020 Sep;303(9):2295-2308. Epub 2019 Dec 17 doi: 10.1002/ar.24318. PMID: 31729194Free PMC Article
Hassler N, Roschger A, Gamsjaeger S, Kramer I, Lueger S, van Lierop A, Roschger P, Klaushofer K, Paschalis EP, Kneissel M, Papapoulos S
J Bone Miner Res 2014 Oct;29(10):2144-51. doi: 10.1002/jbmr.2259. PMID: 24753092
van Lierop AH, Moester MJ, Hamdy NA, Papapoulos SE
J Clin Endocrinol Metab 2014 Feb;99(2):E252-6. Epub 2013 Dec 3 doi: 10.1210/jc.2013-3278. PMID: 24302746
Borra VM, Waterval JJ, Stokroos RJ, Manni JJ, Van Hul W
Calcif Tissue Int 2013 Jul;93(1):93-100. Epub 2013 May 3 doi: 10.1007/s00223-013-9732-8. PMID: 23640157
van Lierop AH, Hamdy NA, van Egmond ME, Bakker E, Dikkers FG, Papapoulos SE
J Bone Miner Res 2013 Apr;28(4):848-54. doi: 10.1002/jbmr.1794. PMID: 23074140

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...