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Dysosteosclerosis

MedGen UID:
98150
Concept ID:
C0432262
Disease or Syndrome
Synonym: DYSOSTEOSCLEROSIS
SNOMED CT: Dysosteosclerosis (254123002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0009138
OMIM®: 224300
Orphanet: ORPHA1782

Definition

A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly. [from ORDO]

Clinical features

From HPO
Broad femoral neck
MedGen UID:
376496
Concept ID:
C1849016
Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Disproportionate short stature
MedGen UID:
168053
Concept ID:
C0878659
Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Obstructive sleep apnea syndrome
MedGen UID:
101045
Concept ID:
C0520679
Disease or Syndrome
Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abducens nerve palsy
MedGen UID:
1645218
Concept ID:
C4551519
Disease or Syndrome
Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.
Facial paralysis
MedGen UID:
5101
Concept ID:
C0015469
Disease or Syndrome
Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Short sternum
MedGen UID:
108394
Concept ID:
C0575497
Finding
Decreased inferosuperior length of the sternum.
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.
Diaphyseal undertubulation
MedGen UID:
331984
Concept ID:
C1835473
Finding
Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.
Narrow iliac wing
MedGen UID:
373150
Concept ID:
C1836688
Finding
Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
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.
Broad ribs
MedGen UID:
336390
Concept ID:
C1848654
Finding
Increased width of ribs
Sclerotic scapulae
MedGen UID:
336559
Concept ID:
C1849263
Finding
Increased density of the bony tissue of the scapula.
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.
Sclerosis of skull base
MedGen UID:
377095
Concept ID:
C1851714
Finding
Increased bone density of the skull base without significant changes in bony contour.
Absent frontal sinuses
MedGen UID:
343405
Concept ID:
C1855669
Finding
Aplasia of frontal sinus.
Parietal bossing
MedGen UID:
347377
Concept ID:
C1857126
Finding
Parietal bossing is a marked prominence in the parietal region.
Absent paranasal sinuses
MedGen UID:
346522
Concept ID:
C1857131
Finding
Aplasia of the paranasal sinuses.
Progressive bowing of long bones
MedGen UID:
341703
Concept ID:
C1857137
Finding
Progressive bending or abnormal curvature of a long bone.
Abnormal metaphyseal trabeculation
MedGen UID:
387751
Concept ID:
C1857139
Finding
An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.
Hypoplastic vertebral bodies
MedGen UID:
354963
Concept ID:
C1863353
Congenital Abnormality
Clavicular sclerosis
MedGen UID:
767583
Concept ID:
C3554669
Finding
An increase in bone density within the clavicle.
Delayed closure of the anterior fontanelle
MedGen UID:
825928
Concept ID:
C3840083
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Sclerosis of hand bone
MedGen UID:
867321
Concept ID:
C4021684
Disease or Syndrome
Osteosclerosis affecting one or more bones of the hand.
Increased intervertebral space
MedGen UID:
868122
Concept ID:
C4022513
Finding
An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.
Short diaphyses
MedGen UID:
871327
Concept ID:
C4025815
Anatomical Abnormality
Natal tooth
MedGen UID:
10268
Concept ID:
C0027443
Finding
A tooth present at birth or erupting within the first month of life.
Premature loss of teeth
MedGen UID:
66678
Concept ID:
C0232513
Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
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).
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Oligodontia
MedGen UID:
904670
Concept ID:
C4082304
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
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.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysosteosclerosis
Follow this link to review classifications for Dysosteosclerosis in Orphanet.

Recent clinical studies

Etiology

Magalhães BM, Catarino L, Carreiro I, Gomes RAMP, Gaspar RR, Matos VMJ, Santos AL
Int J Paleopathol 2021 Sep;34:134-141. Epub 2021 Jul 6 doi: 10.1016/j.ijpp.2021.06.002. PMID: 34243133
Uludağ Alkaya D, Akpınar E, Bilguvar K, Tüysüz B
Am J Med Genet A 2021 Jul;185(7):2271-2277. Epub 2021 Apr 10 doi: 10.1002/ajmg.a.62198. PMID: 33837634
Howaldt A, Nampoothiri S, Quell LM, Ozden A, Fischer-Zirnsak B, Collet C, de Vernejoul MC, Doneray H, Kayserili H, Kornak U
Bone 2019 Mar;120:495-503. Epub 2018 Dec 8 doi: 10.1016/j.bone.2018.12.002. PMID: 30537558
Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH
Hum Mol Genet 2012 Nov 15;21(22):4904-9. Epub 2012 Aug 8 doi: 10.1093/hmg/dds326. PMID: 22875837Free PMC Article
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

Dulski J, Muthusamy K, Lund TC, Wszolek ZK
Parkinsonism Relat Disord 2024 Apr;121:105894. Epub 2023 Oct 10 doi: 10.1016/j.parkreldis.2023.105894. PMID: 37839910
Calder AD, Arulkumaran S, D'Arco F
Bone 2022 Dec;165:116560. Epub 2022 Sep 15 doi: 10.1016/j.bone.2022.116560. PMID: 36116759
Chundoo S, McGoldrick DM, Williams R, McMillan K
BMJ Case Rep 2022 May 12;15(5) doi: 10.1136/bcr-2021-246789. PMID: 35550322Free PMC Article
Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L
J Hum Genet 2021 Jun;66(6):607-611. Epub 2021 Jan 6 doi: 10.1038/s10038-020-00891-w. PMID: 33402699
Whyte MP, Wenkert D, McAlister WH, Novack DV, Nenninger AR, Zhang X, Huskey M, Mumm S
J Bone Miner Res 2010 Nov;25(11):2527-39. doi: 10.1002/jbmr.131. PMID: 20499338Free PMC Article

Prognosis

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Turan S
Bone 2023 Feb;167:116615. Epub 2022 Nov 17 doi: 10.1016/j.bone.2022.116615. PMID: 36402365
Xue JY, Wang Z, Smithson SF, Burren CP, Matsumoto N, Nishimura G, Ikegawa S, Guo L
J Hum Genet 2021 Apr;66(4):371-377. Epub 2020 Oct 9 doi: 10.1038/s10038-020-00831-8. PMID: 33037392
Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L
J Bone Miner Res 2019 Oct;34(10):1873-1879. Epub 2019 Aug 5 doi: 10.1002/jbmr.3805. PMID: 31163101
Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S
J Hum Genet 2018 Jun;63(6):769-774. Epub 2018 Mar 22 doi: 10.1038/s10038-018-0447-6. PMID: 29568001

Clinical prediction guides

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Turan S
Bone 2023 Feb;167:116615. Epub 2022 Nov 17 doi: 10.1016/j.bone.2022.116615. PMID: 36402365
Uludağ Alkaya D, Akpınar E, Bilguvar K, Tüysüz B
Am J Med Genet A 2021 Jul;185(7):2271-2277. Epub 2021 Apr 10 doi: 10.1002/ajmg.a.62198. PMID: 33837634
Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L
J Bone Miner Res 2019 Oct;34(10):1873-1879. Epub 2019 Aug 5 doi: 10.1002/jbmr.3805. PMID: 31163101
Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S
J Hum Genet 2018 Jun;63(6):769-774. Epub 2018 Mar 22 doi: 10.1038/s10038-018-0447-6. PMID: 29568001

Recent systematic reviews

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article

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