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X-linked intellectual disability, Stevenson type

MedGen UID:
930746
•Concept ID:
C4305077
•
Disease or Syndrome
Synonym: X-linked intellectual disability Stevenson type
SNOMED CT: X-linked intellectual disability Stevenson type (718909001)
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:0019422
Orphanet: ORPHA85325

Definition

This syndrome has characteristics of intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked intellectual disability, Stevenson type

Recent clinical studies

Etiology

L1CAM whole gene deletion in a child with L1 syndrome.
Chidsey BA, Baldwin EE, Toydemir R, Ahles L, Hanson H, Stevenson DA
Am J Med Genet A 2014 Jun;164A(6):1555-8. Epub 2014 Mar 25 doi: 10.1002/ajmg.a.36474. PMID: 24668863
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
Nat Genet 1994 Jul;7(3):402-7. doi: 10.1038/ng0794-402. PMID: 7920659
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
Am J Med Genet 1993 Oct 1;47(5):660-78. doi: 10.1002/ajmg.1320470517. PMID: 8266994

Diagnosis

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.
Haghshenas S, Levy MA, Kerkhof J, Aref-Eshghi E, McConkey H, Balci T, Siu VM, Skinner CD, Stevenson RE, Sadikovic B, Schwartz C
Int J Mol Sci 2021 Jan 23;22(3) doi: 10.3390/ijms22031111. PMID: 33498634Free PMC Article

Prognosis

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK
Am J Med Genet A 2010 Mar;152A(3):713-7. doi: 10.1002/ajmg.a.33208. PMID: 20186809
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D
Nat Genet 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177. PMID: 8841189

Clinical prediction guides

Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Sahajpal N, Ziats C, Chaubey A, DuPont BR, Abidi F, Schwartz CE, Stevenson RE
Clin Genet 2024 Feb;105(2):173-184. Epub 2023 Oct 29 doi: 10.1111/cge.14445. PMID: 37899624
L1CAM whole gene deletion in a child with L1 syndrome.
Chidsey BA, Baldwin EE, Toydemir R, Ahles L, Hanson H, Stevenson DA
Am J Med Genet A 2014 Jun;164A(6):1555-8. Epub 2014 Mar 25 doi: 10.1002/ajmg.a.36474. PMID: 24668863
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK
Am J Med Genet A 2010 Mar;152A(3):713-7. doi: 10.1002/ajmg.a.33208. PMID: 20186809
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D
J Med Genet 1995 Apr;32(4):257-63. doi: 10.1136/jmg.32.4.257. PMID: 7643352Free PMC Article
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE
Am J Hum Genet 1990 Sep;47(3):454-8. PMID: 2393020Free PMC Article

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