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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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

See: Feature record | Search on this feature

Abnormality of body height

MedGen UID:: 871403
•Concept ID:: C4025901
•: Finding

Deviation from the norm of height with respect to that which is expected according to age and gender norms.

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Sensorineural hearing loss disorder

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.

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Hyperostosis

MedGen UID:: 9366
•Concept ID:: C0020492
•: Disease or Syndrome

Excessive growth or abnormal thickening of bone tissue.

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Thickened cortex of long bones

MedGen UID:: 333557
•Concept ID:: C1840418
•: Finding

Abnormal thickening of the cortex of long bones.

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Metacarpal diaphyseal endosteal sclerosis

MedGen UID:: 326730
•Concept ID:: C1840419
•: Finding

Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.

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Metatarsal diaphyseal endosteal sclerosis

MedGen UID:: 327100
•Concept ID:: C1840420
•: Finding

Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.

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Sclerotic vertebral body

MedGen UID:: 374866
•Concept ID:: C1842154
•: Finding

Increase in bone density of the vertebral body.

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Clavicular sclerosis

MedGen UID:: 767583
•Concept ID:: C3554669
•: Finding

An increase in bone density within the clavicle.

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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.

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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.

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Torus palatinus

MedGen UID:: 120594
•Concept ID:: C0266981
•: Finding

A bony protrusion present on the midline of the hard palate.

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Flat forehead

MedGen UID:: 347463
•Concept ID:: C1857485
•: Finding

A forehead with abnormal flatness.

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Abnormality of head or neck
Abnormality of the musculoskeletal system
Ear malformation
- Sensorineural hearing loss disorder
Growth abnormality
- Abnormality of body height
- Growth abnormality

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVWorth disease

Primary bone dysplasia with increased bone density
- Worth disease

Follow this link to review classifications for Worth disease in Orphanet.

Professional guidelines

PubMed

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Intern Med J 2021 Nov;51 Suppl 7:143-176. doi: 10.1111/imj.15591. PMID: 34937136

International consensus (ICON) on treatment of Ménière's disease.

Nevoux J, Barbara M, Dornhoffer J, Gibson W, Kitahara T, Darrouzet V
Eur Ann Otorhinolaryngol Head Neck Dis 2018 Feb;135(1S):S29-S32. Epub 2018 Jan 12 doi: 10.1016/j.anorl.2017.12.006. PMID: 29338942

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