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Gnathodiaphyseal dysplasia(GDD)

MedGen UID:
331575
Concept ID:
C1833736
Disease or Syndrome
Synonyms: GDD; GNATHODIAPHYSEAL SCLEROSIS; Levin syndrome 2; Osteogenesis imperfecta Levin type; Osteogenesis imperfecta with unusual skeletal lesions
SNOMED CT: Gnathodiaphyseal dysplasia syndrome (715568002); Gnathodiaphyseal dysplasia (715568002)
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): ANO5 (11p14.3)
 
Monarch Initiative: MONDO:0008151
OMIM®: 166260
Orphanet: ORPHA53697

Definition

Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013). [from OMIM]

Additional description

From MedlinePlus Genetics
Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.

While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder.

Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life.

When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.  https://medlineplus.gov/genetics/condition/gnathodiaphyseal-dysplasia

Clinical features

From HPO
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.
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 cortical sclerosis
MedGen UID:
322263
Concept ID:
C1833739
Finding
An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Osteomyelitis
MedGen UID:
10497
Concept ID:
C0029443
Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGnathodiaphyseal dysplasia
Follow this link to review classifications for Gnathodiaphyseal dysplasia in Orphanet.

Recent clinical studies

Etiology

Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A
Ann Hum Genet 2021 Jan;85(1):37-46. Epub 2020 Aug 7 doi: 10.1111/ahg.12403. PMID: 32770541
Kuroda T, Okano I, Sawada T, Okamoto S, Midorikawa Y, Tachibana T, Yagi T, Inagaki K
BMC Musculoskelet Disord 2019 Feb 23;20(1):92. doi: 10.1186/s12891-019-2464-9. PMID: 30797234Free PMC Article
Marechal G, Schouman T, Mauprivez C, Benassarou M, Chaine A, Diner PA, Zazurca F, Soupre V, Michot C, Baujat G, Khonsari RH
J Stomatol Oral Maxillofac Surg 2019 Nov;120(5):428-431. Epub 2019 Jan 11 doi: 10.1016/j.jormas.2019.01.005. PMID: 30641283
Roginsky VV, Ivanov AL, Khonsari RH
Int J Oral Maxillofac Surg 2010 Apr;39(4):397-401. Epub 2009 Dec 11 doi: 10.1016/j.ijom.2009.11.008. PMID: 20005074

Diagnosis

Cuvelier V, Trost D, Stichelbout M, Michot C, Cormier-Daire V, Boutry N, Machet E, Vincent-Delorme C
Prenat Diagn 2024 Aug;44(9):1098-1104. Epub 2024 Jun 23 doi: 10.1002/pd.6631. PMID: 38922934
Marechal G, Schouman T, Mauprivez C, Benassarou M, Chaine A, Diner PA, Zazurca F, Soupre V, Michot C, Baujat G, Khonsari RH
J Stomatol Oral Maxillofac Surg 2019 Nov;120(5):428-431. Epub 2019 Jan 11 doi: 10.1016/j.jormas.2019.01.005. PMID: 30641283
Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, Mallya SM
Oral Surg Oral Med Oral Pathol Oral Radiol 2016 May;121(5):e123-8. Epub 2016 Jan 28 doi: 10.1016/j.oooo.2016.01.014. PMID: 27068316Free PMC Article
Vengoechea J, Carpenter L
Am J Med Genet A 2015 Jun;167(6):1421-2. Epub 2015 Apr 10 doi: 10.1002/ajmg.a.36986. PMID: 25866257
Ahluwalia J, Ly JQ, Norman E, Costello RF Jr, Beall DP
Clin Imaging 2007 Jan-Feb;31(1):67-9. doi: 10.1016/j.clinimag.2006.07.003. PMID: 17189853

Prognosis

Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, Mallya SM
Oral Surg Oral Med Oral Pathol Oral Radiol 2016 May;121(5):e123-8. Epub 2016 Jan 28 doi: 10.1016/j.oooo.2016.01.014. PMID: 27068316Free PMC Article
Roginsky VV, Ivanov AL, Khonsari RH
Int J Oral Maxillofac Surg 2010 Apr;39(4):397-401. Epub 2009 Dec 11 doi: 10.1016/j.ijom.2009.11.008. PMID: 20005074
Katoh M, Katoh M
Int J Mol Med 2004 Oct;14(4):759-64. PMID: 15375614

Clinical prediction guides

Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A
Ann Hum Genet 2021 Jan;85(1):37-46. Epub 2020 Aug 7 doi: 10.1111/ahg.12403. PMID: 32770541
Di Zanni E, Gradogna A, Picco C, Scholz-Starke J, Boccaccio A
Hum Mutat 2020 Jun;41(6):1157-1170. Epub 2020 Mar 18 doi: 10.1002/humu.24006. PMID: 32112655
Wang X, Liu X, Dong R, Liang C, Reichenberger EJ, Hu Y
Calcif Tissue Int 2019 Jun;104(6):679-689. Epub 2019 Feb 2 doi: 10.1007/s00223-019-00528-x. PMID: 30712070
Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, Mallya SM
Oral Surg Oral Med Oral Pathol Oral Radiol 2016 May;121(5):e123-8. Epub 2016 Jan 28 doi: 10.1016/j.oooo.2016.01.014. PMID: 27068316Free PMC Article
Katoh M, Katoh M
Int J Mol Med 2004 Oct;14(4):759-64. PMID: 15375614

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