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Christianson syndrome(MRXSCH)

MedGen UID:
394455
Concept ID:
C2678194
Disease or Syndrome
Synonyms: Angelman-like syndrome X-linked; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; Mental retardation microcephaly epilepsy and ataxia syndrome; MRXS Christianson; MRXSCH; SLC9A6-Related Syndromic Mental Retardation; X-linked mental retardation, syndromic, Christianson type
SNOMED CT: Christianson syndrome (702354007); X-linked Angelman-like syndrome (702354007); X-linked intellectual developmental disorder Christianson type (702354007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): SLC9A6 (Xq26.3)
 
Monarch Initiative: MONDO:0010278
OMIM®: 300243
Orphanet: ORPHA85278

Disease characteristics

Excerpted from the GeneReview: Christianson Syndrome
Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues. [from GeneReviews]
Authors:
Eric M Morrow  |  Matthew F Pescosolido   view full author information

Additional descriptions

From OMIM
The Christianson type of X-linked syndromic intellectual developmental disorder (MRXSCH) is characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014).  http://www.omim.org/entry/300243
From MedlinePlus Genetics
Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. Individuals who do learn to walk lose the ability in childhood. Most affected children also have recurrent seizures (epilepsy), beginning between ages 1 and 2.

Other features seen in many people with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal eye movements. Affected children often have a happy demeanor with frequent smiling and spontaneous laughter.  https://medlineplus.gov/genetics/condition/christianson-syndrome

Clinical features

From HPO
Bowel incontinence
MedGen UID:
41977
Concept ID:
C0015732
Disease or Syndrome
Involuntary fecal soiling in adults and children who have usually already been toilet trained.
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Adducted thumb
MedGen UID:
98140
Concept ID:
C0431886
Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Slender finger
MedGen UID:
387832
Concept ID:
C1857482
Finding
Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
Abnormal foot morphology
MedGen UID:
1762829
Concept ID:
C5399834
Anatomical Abnormality
An abnormality of the skeleton of foot.
Decreased body weight
MedGen UID:
375512
Concept ID:
C1844806
Finding
Abnormally low body weight.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Mutism
MedGen UID:
6476
Concept ID:
C0026884
Disease or Syndrome
The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.
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.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Sleep disturbance
MedGen UID:
52372
Concept ID:
C0037317
Sign or Symptom
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
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.
Photosensitive tonic-clonic seizure
MedGen UID:
335345
Concept ID:
C1846131
Disease or Syndrome
Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.
Loss of ability to walk in first decade
MedGen UID:
335347
Concept ID:
C1846133
Finding
Intellectual disability, progressive
MedGen UID:
337397
Concept ID:
C1846149
Mental or Behavioral Dysfunction
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Happy demeanor
MedGen UID:
344654
Concept ID:
C1856115
Finding
A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.
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.
Hyperkinetic movements
MedGen UID:
854367
Concept ID:
C3887506
Disease or Syndrome
Motor hyperactivity with excessive movement of muscles of the body as a whole.
Interictal epileptiform activity
MedGen UID:
869073
Concept ID:
C4023491
Finding
Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Long nose
MedGen UID:
326583
Concept ID:
C1839798
Finding
Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChristianson syndrome

Recent clinical studies

Etiology

Prasad H, Rao R
Rev Physiol Biochem Pharmacol 2023;185:195-231. doi: 10.1007/112_2020_25. PMID: 32737755Free PMC Article
Petitjean H, Fatima T, Mouchbahani-Constance S, Davidova A, Ferland CE, Orlowski J, Sharif-Naeini R
Pain 2020 Nov;161(11):2619-2628. doi: 10.1097/j.pain.0000000000001961. PMID: 32569089Free PMC Article
Prasad H, Rao R
Proc Natl Acad Sci U S A 2018 Jul 10;115(28):E6640-E6649. Epub 2018 Jun 26 doi: 10.1073/pnas.1801612115. PMID: 29946028Free PMC Article
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169

Diagnosis

Gruber R, Scholes S, Bertone A, McKinney RA, Orlowski J, Wise MS
Sleep Med 2022 Jan;89:55-59. Epub 2021 Nov 20 doi: 10.1016/j.sleep.2021.11.007. PMID: 34883399
Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM
Ann Neurol 2014 Oct;76(4):581-93. Epub 2014 Sep 19 doi: 10.1002/ana.24225. PMID: 25044251Free PMC Article
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169
Tan WH, Bird LM, Thibert RL, Williams CA
Am J Med Genet A 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. PMID: 24779060
Mignot C, Héron D, Bursztyn J, Momtchilova M, Mayer M, Whalen S, Legall A, Billette de Villemeur T, Burglen L
Brain Dev 2013 Feb;35(2):172-6. Epub 2012 Apr 26 doi: 10.1016/j.braindev.2012.03.010. PMID: 22541666

Therapy

Coorg R, Weisenberg JL
Pediatr Neurol 2015 Dec;53(6):527-31. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.007. PMID: 26421989

Prognosis

Karna GK, Myers KA
Ann Hum Genet 2020 Mar;84(2):201-204. Epub 2019 Oct 3 doi: 10.1111/ahg.12357. PMID: 31583675
Prasad H, Rao R
Proc Natl Acad Sci U S A 2018 Jul 10;115(28):E6640-E6649. Epub 2018 Jun 26 doi: 10.1073/pnas.1801612115. PMID: 29946028Free PMC Article
Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J
Mol Neurodegener 2016 Sep 2;11(1):63. doi: 10.1186/s13024-016-0129-9. PMID: 27590723Free PMC Article
Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE
Am J Med Genet A 2010 Nov;152A(11):2775-83. doi: 10.1002/ajmg.a.33093. PMID: 20949524Free PMC Article

Clinical prediction guides

Gruber R, Scholes S, Bertone A, McKinney RA, Orlowski J, Wise MS
Sleep Med 2022 Jan;89:55-59. Epub 2021 Nov 20 doi: 10.1016/j.sleep.2021.11.007. PMID: 34883399
Petitjean H, Fatima T, Mouchbahani-Constance S, Davidova A, Ferland CE, Orlowski J, Sharif-Naeini R
Pain 2020 Nov;161(11):2619-2628. doi: 10.1097/j.pain.0000000000001961. PMID: 32569089Free PMC Article
Ilie A, Gao AYL, Boucher A, Park J, Berghuis AM, Hoffer MJV, Hilhorst-Hofstee Y, McKinney RA, Orlowski J
Neurobiol Dis 2019 Jan;121:187-204. Epub 2018 Oct 5 doi: 10.1016/j.nbd.2018.10.002. PMID: 30296617
Mathieu ML, de Bellescize J, Till M, Flurin V, Labalme A, Chatron N, Sanlaville D, Chemaly N, des Portes V, Ostrowsky K, Arzimanoglou A, Lesca G
Eur J Paediatr Neurol 2018 Nov;22(6):1124-1132. Epub 2018 Jul 21 doi: 10.1016/j.ejpn.2018.07.004. PMID: 30126759
Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J
Mol Neurodegener 2016 Sep 2;11(1):63. doi: 10.1186/s13024-016-0129-9. PMID: 27590723Free PMC Article

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