U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Worth disease

MedGen UID:
140932
Concept ID:
C0432273
Disease or Syndrome
Synonyms: Endosteal hyperostosis, autosomal dominant; Endosteal hyperostosis, Worth type; Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus; Osteosclerosis autosomal dominant Worth type; Osteosclerosis, autosomal dominant
SNOMED CT: Autosomal dominant osteosclerosis (254131007); Worth disease (254131007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): LRP5 (11q13.2)
 
Monarch Initiative: MONDO:0007764
OMIM®: 144750
Orphanet: ORPHA2790

Definition

Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003). [from OMIM]

Clinical features

From HPO
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hyperostosis
MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
Excessive growth or abnormal thickening of bone tissue.
Thickened cortex of long bones
MedGen UID:
333557
Concept ID:
C1840418
Finding
Abnormal thickening of the cortex of long bones.
Metacarpal diaphyseal endosteal sclerosis
MedGen UID:
326730
Concept ID:
C1840419
Finding
Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.
Metatarsal diaphyseal endosteal sclerosis
MedGen UID:
327100
Concept ID:
C1840420
Finding
Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.
Sclerotic vertebral body
MedGen UID:
374866
Concept ID:
C1842154
Finding
Increase in bone density of the vertebral body.
Clavicular sclerosis
MedGen UID:
767583
Concept ID:
C3554669
Finding
An increase in bone density within the clavicle.
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.
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.
Torus palatinus
MedGen UID:
120594
Concept ID:
C0266981
Finding
A bony protrusion present on the midline of the hard palate.
Flat forehead
MedGen UID:
347463
Concept ID:
C1857485
Finding
A forehead with abnormal flatness.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWorth disease
Follow this link to review classifications for Worth disease in Orphanet.

Professional guidelines

PubMed

Douglas AP, Smibert OC, Bajel A, Halliday CL, Lavee O, McMullan B, Yong MK, van Hal SJ, Chen SC; Australasian Antifungal Guidelines Steering Committee
Intern Med J 2021 Nov;51 Suppl 7:143-176. doi: 10.1111/imj.15591. PMID: 34937136
Duane TM, Huston JM, Collom M, Beyer A, Parli S, Buckman S, Shapiro M, McDonald A, Diaz J, Tessier JM, Sanders J
Surg Infect (Larchmt) 2021 May;22(4):383-399. Epub 2021 Feb 26 doi: 10.1089/sur.2020.436. PMID: 33646051
Williams S, Whatman C, Hume PA, Sheerin K
Sports Med 2012 Feb 1;42(2):153-64. doi: 10.2165/11594960-000000000-00000. PMID: 22124445

Recent clinical studies

Etiology

Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

De Mattia G, Maffi M, Mosca M, Mazzantini M
Arch Osteoporos 2023 Sep 2;18(1):112. doi: 10.1007/s11657-023-01319-6. PMID: 37659026Free PMC Article

Clinical prediction guides

De Mattia G, Maffi M, Mosca M, Mazzantini M
Arch Osteoporos 2023 Sep 2;18(1):112. doi: 10.1007/s11657-023-01319-6. PMID: 37659026Free PMC Article

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...