Graham Cox Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Graham-Cox syndrome is a very rare congenital disease with the main features of agenesis of the corpus callosum , mental retardation , coloboma and micrognathia .

Synonyms are: Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome; Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; MENTAL RETARDATION, X-LINKED, SYNDROMIC 28; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

The name refers to the main authors of the first description from 2003 by the US human geneticists John M. Graham Jr , Timothy C. Cox and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked recessive .

root cause

Of the disease are mutations in IGBP1 - gene on the X chromosome locus q13.1 based on which of the protein phosphatase 2A encodes the regulatory subunit alpha. 4

Clinical manifestations

Clinical criteria are:

Differential diagnosis

The CHARGE syndrome , the FG syndrome and the hypertelorism-hypospadias syndrome are to be distinguished .

Individual evidence

  1. ↑ a b c Corpus callosum agenesis-intellectual disability-coloboma-micrognathy syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ JM Graham, P. Wheeler, D. Tackels-Horne, AE Lin, BD Hall, M. May, KM Short, CE Schwartz, TC Cox: A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma , micrognathia, and a mutation in the Alpha 4 gene at Xq13. In: American journal of medical genetics. Part A. Vol. 123A, No. 1, November 2003, pp. 37-44, doi: 10.1002 / ajmg.a.20504 , PMID 14556245 .
  3. ^ Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Rare Diseases

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