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Syndromic X-linked intellectual disability Shashi type(SMRXS; MRXS11; MRXSSH)

MedGen UID:
335348
Concept ID:
C1846145
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 11; Mental retardation X-linked Shashi type; Mental retardation X-linked syndromic 11; Shashi X-linked mental retardation syndrome
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): RBMX (Xq26.3)
 
Monarch Initiative: MONDO:0010277
OMIM®: 300238
Orphanet: ORPHA85286

Definition

The Shashi type of X-linked syndromic intellectual developmental disorder (MRXSSH) is characterized by moderately impaired intellectual development and distinctive craniofacial skeletal structure and dysmorphism (Shashi et al., 2015). [from OMIM]

Clinical features

From HPO
Macroorchidism
MedGen UID:
224727
Concept ID:
C1263023
Finding
The presence of abnormally large testes.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
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).
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Anatomical Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Thick lower lip vermilion
MedGen UID:
326567
Concept ID:
C1839739
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Narrow palpebral fissure
MedGen UID:
382506
Concept ID:
C2675021
Finding
Reduction in the vertical distance between the upper and lower eyelids.
Periorbital fullness
MedGen UID:
1710990
Concept ID:
C4760994
Finding
Increase in periorbital soft tissue.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndromic X-linked intellectual disability Shashi type
Follow this link to review classifications for Syndromic X-linked intellectual disability Shashi type in Orphanet.

Recent clinical studies

Prognosis

Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Annerén G, Wilbe M, Bondeson ML
Eur J Hum Genet 2024 Mar;32(3):333-341. Epub 2023 Jun 5 doi: 10.1038/s41431-023-01392-y. PMID: 37277488Free PMC Article

Clinical prediction guides

Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Annerén G, Wilbe M, Bondeson ML
Eur J Hum Genet 2024 Mar;32(3):333-341. Epub 2023 Jun 5 doi: 10.1038/s41431-023-01392-y. PMID: 37277488Free PMC Article
Shashi V, Xie P, Schoch K, Goldstein DB, Howard TD, Berry MN, Schwartz CE, Cronin K, Sliwa S, Allen A, Need AC
Clin Genet 2015 Oct;88(4):386-90. Epub 2014 Dec 5 doi: 10.1111/cge.12511. PMID: 25256757

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