Coffin-Siris Syndrome

Classification according to ICD-10
Q87.1	Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The Coffin – Siris syndrome is a very rare congenital disease with the main characteristics hypoplasia of the finger and toe bones (phalanges), nail hypoplasia , short stature and reduced intelligence .

Synonyms are: English FIFTH DIGIT SYNDROME

The name refers to the authors of the first description from 1970 by the American pediatrician Grange S. Coffin (* 1923) and the radiologist Evelyn Siris (1914–1987)

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is either autosomal - recessive or autosomal dominant , but mostly new mutations. The female sex is affected much more often (in a ratio of 4 to 1).

root cause

The disease is based on mutations at gene location 7q32-q34. Mutations in the SOX11 gene at 2p25.2 were found in some of those affected. Furthermore, mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1 and SMARCE1 genes have been described, which each code for a sub-unit of the SWI / SNF chromatin remodeling complex.

Clinical manifestations

Clinical criteria are:

• Growth retardation already beginning intrauterine
• Microcephaly , brachycephaly
• epilepsy
• Hair abnormalities : sparse head hair in babies , hypertrichosis on the back , upper arm and thigh
• Facial abnormalities already at birth: bushy eyebrows , epicanthus , narrow eyelids , strabismus , short and wide nose , elapsed philtrum , macroglossia , small teeth ( microdontia ) with enamel hypoplasia , dysplastic ears
• Hypoplasia of the phalanges and nails, decreasing in later years, mainly 5th ray affected, 1st only rarely, clinodactyly
• Hypermobile joints , frequent hip dislocations
• delayed bone age
• frequent respiratory infections

In addition to scoliosis or chicken breasts occur.

diagnosis

The diagnosis is based on the main clinical findings and can be confirmed by human genetic tests . Changes to the little finger do not always have to be present.

In the diagnostic imaging , disturbances of the find migration disorder , Heterotopias or reduced Gyrierung.

Differential diagnosis

The following are to be distinguished:

• Nicolaides – Baraitser Syndrome
• BOD syndrome
• DOOR syndrome
• Mabry syndrome
• Rubinstein-Taybi Syndrome
• Cornelia de Lange Syndrome

Prospect of healing

The prognosis is impaired by possible aspiration pneumonia and seizures .

literature

• P. Meinecke, R. Engelbrecht, E. Schaefer: Coffin-Siris syndrome in a 5 year old girl. In: Monthly Pediatric  : Organ of the German Society for Pediatrics. Vol. 134, No. 9, September 1986, pp. 692-695, PMID 3785238 .
• T. Kosho, N. Miyake, JC Carey: Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI / SNF) complex: historical review and recent advances using next generation sequencing. In: American journal of medical genetics. Part C, Seminars in medical genetics. Vol. 166C, No. 3, September 2014, pp. 241-251, doi: 10.1002 / ajmg.c.31415 , PMID 25169878 (Review).
• SS Vergano, MA Deardorff: Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. In: American journal of medical genetics. Part C, Seminars in medical genetics. Vol. 166C, No. 3, September 2014, pp. 252-256, doi: 10.1002 / ajmg.c.31411 , PMID 25169447 .

Web links

• Genetics Home Reference

Individual evidence

1. ↑ ^{a b c d} Coffin-Siris syndrome. In: Orphanet (Rare Disease Database).
2. ↑ ^{a b c} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
3. ↑ Minagi H. Evelyn L. Siris-Levitin, MD 1914-1987. Radiology 1988; 167: 289
4. ^ Who named it Coffin
5. ↑ GS Coffin, E. Siris: Mental retardation with absent fifth fingernail and terminal phalanx. In: American Journal of Diseases of Children (1960). Vol. 119, No. 5, May 1970, pp. 433-439, PMID 5442442 .
6. ↑ ^{a b c d} Orphanet Coffin-Siris Syndrome
7. ↑ M. Haspeslagh, JP Fryns, H. van den Berghe: The Coffin-Siris syndrome: report of a family and further delineation. In: Clinical genetics. Vol. 26, No. 4, October 1984, pp. 374-378, PMID 6499251 .
8. ↑ Coffin-Siris syndrome.  In: Online Mendelian Inheritance in Man . (English)
9. ↑ Mental retardation, autosomal dominant, 27. In: Orphanet (database for rare diseases).
10. ↑ Y. Tsurusaki, E. Koshimizu, H. Ohashi, S. Phadke, I. Kou, M. Shiina, T. Suzuki, N. Okamoto, S. Imamura, M. Yamashita, S. Watanabe, K. Yoshiura, H. Kodera, S. Miyatake, M. Nakashima, H. Saitsu, K. Ogata, S. Ikegawa, N. Miyake, N. Matsumoto: De novo SOX11 mutations cause Coffin-Siris syndrome. In: Nature Communications . Vol. 5, 2014, p. 4011, doi: 10.1038 / ncomms5011 , PMID 24886874 .
11. ↑ Mental retardation, autosomal dominant 14. In: Orphanet (database for rare diseases).
12. ↑ Mental retardation, autosomal dominant 12. In: Orphanet (database for rare diseases).
13. ^ Mental retardation, autosomal dominant 16. In: Orphanet (database for rare diseases).
14. ↑ Mental retardation, autosomal dominant 15. In: Orphanet (database for rare diseases).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !