U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Atkin-Flaitz syndrome

MedGen UID:
163230
•Concept ID:
C0796206
•
Disease or Syndrome
Synonyms: Atkin syndrome; Mental retardation X-linked Atkin type; X-linked mental retardation syndrome, Atkin type
SNOMED CT: X-linked intellectual disability Atkin type (718577005); Atkin Flaitz syndrome (718577005)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
X-linked dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010323
OMIM®: 300431
Orphanet: ORPHA1193

Definition

Atkin-Flaitz syndrome has characteristics of moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtkin-Flaitz syndrome
Follow this link to review classifications for Atkin-Flaitz syndrome in Orphanet.

Recent clinical studies

Etiology

Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family.
Baraitser M, Reardon W, Vijeratnam S
Am J Med Genet 1995 Jul 3;57(3):380-4. doi: 10.1002/ajmg.1320570303. PMID: 7677138

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...