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Diencephalic-mesencephalic junction dysplasia syndrome 2(DMJDS2)

MedGen UID:: 1684846
•Concept ID:: C5231440
•: Disease or Syndrome

Synonym:	SPASTIC TETRAPARESIS, DYSTONIA, DEVELOPMENTAL DELAY, AND STRUCTURAL ABNORMALITIES OF THE BASAL GANGLIA

Gene (location): Gene(s) directly associated with this condition or phenotype.	GSX2 (4q12)

Monarch Initiative:	MONDO:0020762
OMIM®:	618646

Definition

Diencephalic-mesencephalic junction dysplasia syndrome-2 (DMJDS2) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and hypotonia apparent from infancy. Affected individuals develop severe progressive hyperkinetic movements, including spastic tetraplegia, dystonia, and bulbar dysphagia necessitating tube feeding. Patients are unable to walk and have severely impaired intellectual development with absent speech. Brain imaging shows a unique malformation reflecting abnormal embryonic development of the diencephalic-mesencephalic junction (DMJ), with agenesis of the basal ganglia and olfactory bulb, hypoplasia of the thalamus, and abnormal course of the corticospinal tracts (summary by De Mori et al., 2019). For a discussion of genetic heterogeneity of DMJDS, see DMJDS1 (251280). [from OMIM]

Clinical features

From HPO

Feeding difficulties in infancy

MedGen UID:: 436211
•Concept ID:: C2674608
•: Finding

Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.

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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.

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Spastic tetraplegia