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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.

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Gastrostomy tube feeding in infancy

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

Feeding problem necessitating gastrostomy tube feeding.

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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.

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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.

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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.

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Hypoplasia of the corpus callosum

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

Underdevelopment of the corpus callosum.

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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.

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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).

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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.

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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.

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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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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

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