OHDO syndrome

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Classification according to ICD-10
Q10.3 Other congenital malformations of the eyelid
ICD-10 online (WHO version 2019)

The OHDO syndrome or Ohdo blepharophimosis syndrome (OBS) is a group of very rare congenital diseases with a combination of mental retardation, congenital heart defects , blepharophimosis , blepharoptosis and hypoplastic teeth.

Synonyms are: BMRS type Ohdo; Blepharophimosis-intellectual disorder type Ohdo; Blepharophimosis syndrome ohdo type; Ohdo Madokoro Sonoda Syndrome; English Blepharophimosis and mental retardation syndrome (BMRS)

The name refers to the first author of the first description from 1986 by the Japanese pediatrician Shozo Ohdo and colleagues.

classification

The following classification is currently favored:

  • partial chromosome 3p deletion
  • "Classic" BMRS type Ohdo
  • BMRS type Say-Barber-Biesecker-Young-Simpson , synonyms: Say-Barber-Biesecker-Young-Simpson syndrome ; Blepharophimosis intellectual disability, type SBBYS; Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual disability; SBBYSS, mutations in the KAT6B gene at 10q22.2
  • BMRS type Maat – Kievit – Brunner , synonyms: blepharophimosis-intellectual disability syndrome, type Maat-Kievit-Brunner; BMRS of the Maat-Kievit-Brunner type; BMRS, MKB type; X-linked Ohdo syndrome; Blepharophimosis-intellectual disability syndrome, MKB type , X-linked recessive with mutations in the MED-12 gene
  • BMRS type Verloes

distribution

The frequency of all forms is given as less than 1 in 1,000,000, with the "classic" form a possible inheritance mechanism and a genetic basis are not known.

Clinical manifestations

Clinical criteria are:

It is a heterogeneous clinical picture with multiple congenital anomalies and characterized by blepharophimosis, ptosis, hypoplastic teeth, hearing disorders and intellectual disabilities.

Sometimes there are also abnormal ears, microcephaly and retarded growth or cryptorchidism.

literature

  • J. Clayton-Smith, J. O'Sullivan, S. Daly, S. Bhaskar, R. Day, B. Anderson, AK Voss, T. Thomas, LG Biesecker, P. Smith, A. Fryer, KE Chandler, B Kerr, M. Tassabehji, SA Lynch, M. Krajewska-Walasek, S. McKee, J. Smith, E. Sweeney, S. Mansour, S. Mohammed, D. Donnai, G. Black: Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. In: American Journal of Human Genetics . Vol. 89, No. 5, November 2011, pp. 675-681, doi: 10.1016 / j.ajhg.2011.10.008 , PMID 22077973 , PMC 3213399 (free full text).

Individual evidence

  1. ↑ a b c Ohdo blepharophimosis syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ S. Ohdo, H. Madokoro, T. Sonoda, K. Hayakawa: Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. In: Journal of medical genetics. Vol. 23, No. 3, June 1986, pp. 242-244, PMID 3723552 , PMC 1049635 (free full text).
  3. ↑ a b A. Verloes, D. Bremond-Gignac, B. Isidor, A. David, C. Baumann, MA Leroy, R. Stevens, Y. Gillerot, D. Héron, B. Héron, B. Benzacken, D. Lacombe, H. Brunner, P. Bitoun: Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. In: American journal of medical genetics. Part A. Volume 140, Number 12, June 2006, pp. 1285-1296, doi: 10.1002 / ajmg.a.31270 , PMID 16700052 .
  4. ↑ Blepharophimosis-intellectual disability, type SBBYS. In: Orphanet (Rare Disease Database).
  5. ↑ SBBYSS syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Blepharophimosis-intellectual disability syndrome, type Maat-Kievit-Brunner. In: Orphanet (Rare Disease Database).
  7. ^ Ohdo syndrome, X-linked.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ OHDO SYNDROME.  In: Online Mendelian Inheritance in Man . (English)

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