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Diencephalic-mesencephalic junction dysplasia syndrome 1(DMJDS1)

MedGen UID:
1615973
Concept ID:
C4538630
Disease or Syndrome
Synonyms: DMJDS1; Microcephaly with spastic quadriplegia; Recessive microcephaly with spastic quadriplegia
 
Gene (location): PCDH12 (5q31.3)
 
Monarch Initiative: MONDO:0009625
OMIM®: 251280

Definition

Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present (summary by Aran et al., 2016 and Guemez-Gamboa et al., 2018). Genetic Heterogeneity of Diencephalic-Mesencephalic Junction Dysplasia Syndrome See also DMJDS2 (618646), caused by mutation in the GSX2 gene (616253) on chromosome 4q12. [from OMIM]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
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.
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).
Focal clonic seizure
MedGen UID:
155749
Concept ID:
C0752323
Disease or Syndrome
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
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.
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).
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, 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.
Progressive microcephaly
MedGen UID:
340542
Concept ID:
C1850456
Anatomical Abnormality
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Recent clinical studies

Etiology

Jacobs E, Whitehead MT
Pediatr Radiol 2023 Jan;53(1):121-130. Epub 2022 Jul 22 doi: 10.1007/s00247-022-05439-y. PMID: 35867110
Whitehead MT, Najim N
AJNR Am J Neuroradiol 2020 Apr;41(4):729-735. Epub 2020 Feb 27 doi: 10.3174/ajnr.A6446. PMID: 32115420Free PMC Article

Diagnosis

Jacobs E, Whitehead MT
Pediatr Radiol 2023 Jan;53(1):121-130. Epub 2022 Jul 22 doi: 10.1007/s00247-022-05439-y. PMID: 35867110
Mattioli F, Voisin N, Preikšaitienė E, Kozlovskaja I, Kučinskas V, Reymond A
Am J Med Genet A 2021 Apr;185(4):1275-1281. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62098. PMID: 33527719
Whitehead MT, Najim N
AJNR Am J Neuroradiol 2020 Apr;41(4):729-735. Epub 2020 Feb 27 doi: 10.3174/ajnr.A6446. PMID: 32115420Free PMC Article
Abdel Razek AA, Castillo M
J Comput Assist Tomogr 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. PMID: 26599961

Prognosis

Whitehead MT, Najim N
AJNR Am J Neuroradiol 2020 Apr;41(4):729-735. Epub 2020 Feb 27 doi: 10.3174/ajnr.A6446. PMID: 32115420Free PMC Article

Clinical prediction guides

Whitehead MT, Najim N
AJNR Am J Neuroradiol 2020 Apr;41(4):729-735. Epub 2020 Feb 27 doi: 10.3174/ajnr.A6446. PMID: 32115420Free PMC Article

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