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Neurodevelopmental disorder with seizures and gingival overgrowth(NEDSGO)

MedGen UID:
1784299
Concept ID:
C5543395
Disease or Syndrome
Synonyms: NEDSGO; NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
 
Gene (location): TBC1D2B (15q24.3-25.1)
 
Monarch Initiative: MONDO:0859148
OMIM®: 619323

Definition

Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) is an autosomal recessive disorder with a highly variable phenotype. Some patients have early normal development with developmental regression apparent in the first years of life, whereas others present with hypotonia or delayed development. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Other more variable features may include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, and seizures. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles. There is a wide phenotypic spectrum with features that may develop with age; the disorder appears to comprise a continuum of evolving neurologic manifestations (Harms et al., 2020). [from OMIM]

Clinical features

From HPO
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Slurred speech
MedGen UID:
65885
Concept ID:
C0234518
Finding
Abnormal coordination of muscles involved in speech.
Inappropriate laughter
MedGen UID:
98407
Concept ID:
C0424304
Finding
Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Inappropriate crying
MedGen UID:
810697
Concept ID:
C0860609
Sign or Symptom
Uncontrolled episodes of crying occur without any apparent motivating stimuli.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
EEG with generalized epileptiform discharges
MedGen UID:
869058
Concept ID:
C4023476
Finding
EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
EEG with occipital epileptiform discharges
MedGen UID:
1780269
Concept ID:
C5539779
Finding
Focal epileptiform EEG discharges recorded in the occipital region.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Jaw swelling
MedGen UID:
900862
Concept ID:
C4280766
Finding
Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).
Gingival overgrowth
MedGen UID:
87712
Concept ID:
C0376480
Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
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.

Recent clinical studies

Etiology

Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384
Hamilton MJ, Suri M
Adv Genet 2020;105:137-174. Epub 2020 May 26 doi: 10.1016/bs.adgen.2020.03.002. PMID: 32560786
Douzgou S, Mingarelli R, Dallapiccola B
Clin Dysmorphol 2009 Oct;18(4):205-8. doi: 10.1097/MCD.0b013e32832dc393. PMID: 19625955
Ambalavanan N, Vanaja, Arunmozhi U
Indian J Dent Res 2005 Jul-Sep;16(3):122-5. PMID: 16454328
Bäckman N, Holm AK, Hänström L, Blomquist HK, Heijbel J, Säfström G
Scand J Dent Res 1989 Jun;97(3):222-32. doi: 10.1111/j.1600-0722.1989.tb01606.x. PMID: 2740833

Diagnosis

Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384
Hamilton MJ, Suri M
Adv Genet 2020;105:137-174. Epub 2020 May 26 doi: 10.1016/bs.adgen.2020.03.002. PMID: 32560786
Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A
Clin Genet 2018 Mar;93(3):703-706. Epub 2018 Jan 25 doi: 10.1111/cge.13166. PMID: 29095483
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V
Epileptic Disord 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PMID: 27267311
Berube M, Hubbard C, Mallory L, Larsen E, Morrison P, Augustyn M
J Dev Behav Pediatr 2013 May;34(4):288-90. doi: 10.1097/DBP.0b013e31829094bb. PMID: 23669873

Therapy

Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V
Epileptic Disord 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PMID: 27267311
Ambalavanan N, Vanaja, Arunmozhi U
Indian J Dent Res 2005 Jul-Sep;16(3):122-5. PMID: 16454328
Kamolmatyakul S, Kietthubthew S, Anusaksathien O
Pediatr Dent 2001 Nov-Dec;23(6):508-13. PMID: 11800453
Brown RS, Di Stanislao PT, Beaver WT, Bottomley WK
Oral Surg Oral Med Oral Pathol 1991 May;71(5):565-8. doi: 10.1016/0030-4220(91)90363-h. PMID: 1828561
Bäckman N, Holm AK, Hänström L, Blomquist HK, Heijbel J, Säfström G
Scand J Dent Res 1989 Jun;97(3):222-32. doi: 10.1111/j.1600-0722.1989.tb01606.x. PMID: 2740833

Prognosis

Berube M, Hubbard C, Mallory L, Larsen E, Morrison P, Augustyn M
J Dev Behav Pediatr 2013 May;34(4):288-90. doi: 10.1097/DBP.0b013e31829094bb. PMID: 23669873
Ambalavanan N, Vanaja, Arunmozhi U
Indian J Dent Res 2005 Jul-Sep;16(3):122-5. PMID: 16454328
Kamolmatyakul S, Kietthubthew S, Anusaksathien O
Pediatr Dent 2001 Nov-Dec;23(6):508-13. PMID: 11800453
Tsai TP
Dent Traumatol 2001 Jun;17(3):139-42. doi: 10.1034/j.1600-9657.2001.017003139.x. PMID: 11499764

Clinical prediction guides

Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V
Epileptic Disord 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PMID: 27267311

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