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Severe X-linked intellectual disability, Gustavson type(GUST)

MedGen UID:: 167088
•Concept ID:: C0795965
•: Disease or Syndrome

Synonyms:	Gustavson syndrome; Mental retardation Gustavson type, X-linked; Mental retardation with optic atrophy, deafness, and seizures; Mental retardation X-linked severe Gustavson type
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. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0010661
OMIM®:	309555
Orphanet:	ORPHA3078

Definition

A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. [from ORDO]

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Spasticity

MedGen UID:: 7753
•Concept ID:: C0026838
•: Sign or Symptom

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

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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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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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Restricted large joint movement

MedGen UID:: 870784
•Concept ID:: C4025241
•: Finding

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Optic atrophy

MedGen UID:: 18180
•Concept ID:: C0029124
•: Disease or Syndrome

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

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Blindness

MedGen UID:: 99138
•Concept ID:: C0456909
•: Disease or Syndrome

Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.

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Severely reduced visual acuity

MedGen UID:: 226987
•Concept ID:: C1301509
•: Disease or Syndrome

Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).

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Abnormality of the ear
- Hearing impairment
Abnormality of the eye
Abnormality of the musculoskeletal system
- Microcephaly
- Restricted large joint movement
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSevere X-linked intellectual disability, Gustavson type

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Severe X-linked intellectual disability, Gustavson type

Follow this link to review classifications for Severe X-linked intellectual disability, Gustavson type in Orphanet.

Recent clinical studies

Clinical prediction guides

Linkage mapping of a severe X-linked mental retardation syndrome.

Malmgren H, Sundvall M, Dahl N, Gustavson KH, Annerén G, Wadelius C, Steén-Bondeson ML, Pettersson U
Am J Hum Genet 1993 Jun;52(6):1046-52. PMID: 8503440 Free PMC Article

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Severe X-linked intellectual disability, Gustavson type(GUST)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Clinical prediction guides

Supplemental Content

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