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Sclerosteosis 2(SOST2)

MedGen UID:
482032
Concept ID:
C3280402
Disease or Syndrome
Synonym: SOST2
 
Gene (location): LRP4 (11p11.2)
 
Monarch Initiative: MONDO:0013679
OMIM®: 614305

Definition

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (269500). [from OMIM]

Clinical features

From HPO
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Cutaneous finger syndactyly
MedGen UID:
866898
Concept ID:
C4021254
Congenital Abnormality
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Tetraparesis
MedGen UID:
78731
Concept ID:
C0270790
Finding
Weakness of all four limbs.
Cranial nerve compression
MedGen UID:
141743
Concept ID:
C0521670
Disease or Syndrome
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Spastic ataxia
MedGen UID:
376528
Concept ID:
C1849156
Disease or Syndrome
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.
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Rossi M, Battafarano G, De Martino V, Scillitani A, Minisola S, Del Fattore A
J Endocrinol 2021 Feb;248(2):R29-R40. doi: 10.1530/JOE-20-0285. PMID: 33258798
Appelman-Dijkstra NM, Papapoulos SE
Endocrine 2016 Jun;52(3):414-26. Epub 2016 Feb 18 doi: 10.1007/s12020-016-0888-7. PMID: 26892377Free PMC Article
Papapoulos SE
Ann Rheum Dis 2011 Mar;70 Suppl 1:i119-22. doi: 10.1136/ard.2010.141150. PMID: 21339215

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

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

Therapy

Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K
Hum Mol Genet 2014 Apr 1;23(7):1856-68. Epub 2013 Nov 13 doi: 10.1093/hmg/ddt578. PMID: 24234652Free PMC Article

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