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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.
 
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

Baraitser M, Reardon W, Vijeratnam S
Am J Med Genet 1995 Jul 3;57(3):380-4. doi: 10.1002/ajmg.1320570303. PMID: 7677138

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