Siderius Hamel Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Siderius-Hamel syndrome is a very rare congenital to the non-syndromic X-linked mental retardation scoring disease with the main features of mental retardation and cleft lip and palate .
Synonyms are: mental retardation, X-linked, type Siderius; English Mental retardation syndrome, X-linked, Siderius type
The name refers to the first author of the first description from 1999 by the Dutch human geneticists Liesbeth E. Siderius, Ben CJ Hamel and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far seven people have been reported. The inheritance is X-linked - recessive .
root cause
The disease are mutations in PHF8 - gene on the X chromosome on locus p11.22 basis.
Clinical manifestations
Clinical criteria are:
- Manifestation in infancy
- mental retardation
- Cleft lip and palate
In addition, there may be preaxial polydactyly , large hands and cryptorchidism .
literature
- F. Abidi, M. Miano, J. Murray, C. Schwartz: A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip / cleft palate. In: Clinical genetics. Vol. 72, No. 1, July 2007, pp. 19-22, doi: 10.1111 / j.1399-0004.2007.00817.x , PMID 17594395 , PMC 2570350 (free full text).
Individual evidence
- ↑ a b c Mental retardation, X-linked, Siderius type. In: Orphanet (Rare Disease Database).
- ↑ LE Siderius, BC Hamel, H. van Bokhoven, F. de Jager, B. van den Helm, H. Kremer, JA Heineman-de Boer, HH Ropers, EC Mariman: X-linked mental retardation associated with cleft lip / palate maps to Xp11.3-q21.3. In: American journal of medical genetics. Vol. 85, No. 3, July 1999, pp. 216-220, PMID 10398231 .
- ^ Mental retardation syndrome, X-linked, Siderius type. In: Online Mendelian Inheritance in Man . (English)
