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Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity(NEDBASS)

MedGen UID:: 1711516
•Concept ID:: C5394423
•: Disease or Syndrome

Synonyms:	NEDBASS; NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY

Gene (location): Gene(s) directly associated with this condition or phenotype.	PTPN23 (3p21.31)

Monarch Initiative:	MONDO:0030046
OMIM®:	618890

Definition

Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from early infancy, poor overall growth often with microcephaly, impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. Early death may occur (summary by Bend et al., 2020). [from OMIM]

Clinical features

From HPO

Poor suck

MedGen UID:: 324693
•Concept ID:: C1837142
•: Finding

An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.

See: Feature record | Search on this feature

Gastrostomy tube feeding in infancy

MedGen UID:: 892362
•Concept ID:: C4023342
•: Finding

Feeding problem necessitating gastrostomy tube feeding.

See: Feature record | Search on this feature

Focal motor seizure

MedGen UID:: 5237
•Concept ID:: C0016399
•: Disease or Syndrome

A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.

See: Feature record | Search on this feature

Spasticity

MedGen UID:: 7753
•Concept ID:: C0026838
•: Sign or Symptom

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

See: Feature record | Search on this feature

Encephalopathy

MedGen UID:: 39314
•Concept ID:: C0085584
•: Disease or Syndrome

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.

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Tonic seizure

MedGen UID:: 82855
•Concept ID:: C0270844
•: Disease or Syndrome

A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.

See: Feature record | Search on this feature

Hypoplasia of the corpus callosum

MedGen UID:: 138005
•Concept ID:: C0344482
•: Congenital Abnormality

Underdevelopment of the corpus callosum.

See: Feature record | Search on this feature

Hypsarrhythmia

MedGen UID:: 195766
•Concept ID:: C0684276
•: Finding

Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).

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Developmental stagnation

MedGen UID:: 341348
•Concept ID:: C1848980
•: Finding

A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.

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Lateral ventricle dilatation

MedGen UID:: 383904
•Concept ID:: C1856409
•: Pathologic Function

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Profound global developmental delay

MedGen UID:: 766364
•Concept ID:: C3553450
•: Disease or Syndrome

A profound delay in the achievement of motor or mental milestones in the domains of development of a child.

See: Feature record | Search on this feature

Infantile spasms

MedGen UID:: 854616
•Concept ID:: C3887898
•: Disease or Syndrome

Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).

See: Feature record | Search on this feature

Myoclonic seizure

MedGen UID:: 1385980
•Concept ID:: C4317123
•: Sign or Symptom

A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

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Hypertonia

MedGen UID:: 10132
•Concept ID:: C0026826
•: Finding

A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.

See: Feature record | Search on this feature

Axial hypotonia

MedGen UID:: 342959
•Concept ID:: C1853743
•: Finding

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Breech presentation

MedGen UID:: 654
•Concept ID:: C0006157
•: Pathologic Function

A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.

See: Feature record | Search on this feature

Optic nerve hypoplasia

MedGen UID:: 137901
•Concept ID:: C0338502
•: Disease or Syndrome

Underdevelopment of the optic nerve.

See: Feature record | Search on this feature

Abnormal visual fixation

MedGen UID:: 1390282
•Concept ID:: C4477094
•: Finding

Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.

See: Feature record | Search on this feature

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Abnormality of prenatal development or birth
- Breech presentation
Abnormality of the digestive system
- Gastrostomy tube feeding in infancy
- Poor suck
Abnormality of the eye
- Abnormal visual fixation
- Optic nerve hypoplasia
Abnormality of the musculoskeletal system
Abnormality of the nervous system

Professional guidelines

PubMed

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
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Recent clinical studies

Etiology

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The atypical social brain network in autism: advances in structural and functional MRI studies.

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF
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Diagnosis

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P
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Therapy

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Balancing risks and benefits of cannabis use: umbrella review of meta-analyses of randomised controlled trials and observational studies.

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Cannabis: A Toxin-Producing Plant with Potential Therapeutic Uses.

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Prognosis

Parkinson's disease - genetic cause.

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB
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Clinical prediction guides

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

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Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C
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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK
Am J Med Genet A 2020 May;182(5):962-973. Epub 2020 Feb 7 doi: 10.1002/ajmg.a.61505. PMID: 32031333

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Recent systematic reviews

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MedGen

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Links from Gene

Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity(NEDBASS)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Recent activity