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Intellectual developmental disorder with seizures and language delay(IDDSELD)

MedGen UID:: 1740295
•Concept ID:: C5436574
•: Disease or Syndrome

Synonym:	IDDSELD

Gene (location): Gene(s) directly associated with this condition or phenotype.	SETD1B (12q24.31)

Monarch Initiative:	MONDO:0033559
OMIM®:	619000

Disease characteristics

Excerpted from the GeneReview: SETD1B-Related Neurodevelopmental Disorder

SETD1B-related neurodevelopmental disorder (SETD1B-NDD) is characterized by developmental delay (mainly affecting speech and language), intellectual disability, seizures, autism spectrum disorder or autism-like behaviors, and additional behavioral concerns. Speech delay and/or language disorder has been reported in most affected individuals. Delay in gross motor skills and mild-to-moderate intellectual disability are common. Most affected individuals have seizures with variable onset and seizure type. Behavioral issues including hyperactivity, aggression, anxiety, and sleep disorders have been reported in approximately half of individuals. Less common features include ophthalmologic manifestations and feeding issues. [from GeneReviews]

Authors:
Alexandra Roston | William Gibson view full author information

Additional description

From OMIM
Intellectual developmental disorder with seizures and language delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed (summary by Roston et al., 2021). http://www.omim.org/entry/619000

Clinical features

From HPO

Tapered finger

MedGen UID:: 98098
•Concept ID:: C0426886
•: Finding

The gradual reduction in girth of the finger from proximal to distal.

See: Feature record | Search on this feature

Anxiety

MedGen UID:: 1613
•Concept ID:: C0003467
•: Finding

Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Delayed speech and language development

MedGen UID:: 105318
•Concept ID:: C0454644
•: Finding

A degree of language development that is significantly below the norm for a child of a specified age.

See: Feature record | Search on this feature

Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

See: Feature record | Search on this feature

Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

See: Feature record | Search on this feature

Autistic behavior

MedGen UID:: 163547
•Concept ID:: C0856975
•: Mental or Behavioral Dysfunction

Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.

See: Feature record | Search on this feature

Intellectual disability, profound

MedGen UID:: 892508
•Concept ID:: C3161330
•: Mental or Behavioral Dysfunction

Profound mental retardation is defined as an intelligence quotient (IQ) below 20.

See: Feature record | Search on this feature

EEG with polyspike wave complexes

MedGen UID:: 867392
•Concept ID:: C4021757
•: Finding

The presence of complexes of repetitive spikes and waves in EEG.

See: Feature record | Search on this feature

Myoclonic absence seizure

MedGen UID:: 869094
•Concept ID:: C4023512
•: Disease or Syndrome

Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.

See: Feature record | Search on this feature

EEG with spike-wave complexes (2.5-3.5 Hz)

MedGen UID:: 869260
•Concept ID:: C4023685
•: Finding

The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).

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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Increased theta frequency activity in EEG

MedGen UID:: 1617724
•Concept ID:: C4531060
•: Finding

Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.

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Flat occiput

MedGen UID:: 332439
•Concept ID:: C1837402
•: Finding

Reduced convexity of the occiput (posterior part of skull).

See: Feature record | Search on this feature

Downslanted palpebral fissures

MedGen UID:: 98391
•Concept ID:: C0423110
•: Finding

The palpebral fissure inclination is more than two standard deviations below the mean.

See: Feature record | Search on this feature

Square face

MedGen UID:: 371253
•Concept ID:: C1832127
•: Finding

Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.

See: Feature record | Search on this feature

Thick lower lip vermilion

MedGen UID:: 326567
•Concept ID:: C1839739
•: Finding

Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).

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Thick eyebrow

MedGen UID:: 377914
•Concept ID:: C1853487
•: Finding

Increased density/number and/or increased diameter of eyebrow hairs.

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Full cheeks

MedGen UID:: 355661
•Concept ID:: C1866231
•: Finding

Increased prominence or roundness of soft tissues between zygomata and mandible.

See: Feature record | Search on this feature

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Abnormality of head or neck
Abnormality of limbs
- Tapered finger
Abnormality of the musculoskeletal system
- Flat occiput
Abnormality of the nervous system

Professional guidelines

PubMed

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