Pilarowski-Bjornsson syndrome(PILBOS)

MedGen UID:: 1619150
•Concept ID:: C4540131
•: Disease or Syndrome

Synonym:	DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES
SNOMED CT:	Pilarowski Bjornsson syndrome (1217382002); Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (1217382002)
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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	CHD1 (5q15-21.1)

Monarch Initiative:	MONDO:0060568
OMIM®:	617682
Orphanet:	ORPHA529965

Definition

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018). [from OMIM]

Clinical features

From HPO

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.

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Speech apraxia

MedGen UID:: 78112
•Concept ID:: C0264611
•: Disease or Syndrome

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.

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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.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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Frontal bossing

MedGen UID:: 67453
•Concept ID:: C0221354
•: Congenital Abnormality

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

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Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

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Macrocephaly

MedGen UID:: 745757
•Concept ID:: C2243051
•: Finding

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

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Immunodeficiency

MedGen UID:: 7034
•Concept ID:: C0021051
•: Disease or Syndrome

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

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Downslanted palpebral fissures