Greig syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Greig syndrome is a congenital disorder with a characteristic combination of traumatic facial dysmorphia and polydactyly (manifoldness of the fingers).
Synonyms are:
- Greig's cephalopolyndactyly syndrome
- Cephalopolysyndactyly
- Hootnick-Holmes Syndrome
Greig's familial hypertelorism should not be confused .
The names refer to the author of the first description in 1926 by the Scottish doctor David Middleton Greig (1864-1936) and the authors of a publication from 1972, the American orthopedic surgeon David Randall Hootnick and the American pediatrician Levis B. Holmes .
distribution
The frequency is given as 1–9 in 1,000,000, inheritance is autosomal dominant .
root cause
The disease are causative mutations in GLI3- gene on the basis Location7p13 which encodes a transcription factor. Other mutations in the same gene are found in Pallister Hall Syndrome and Acrocallosal Syndrome .
Clinical manifestations
Diagnostic criteria are:
- Macrocephalus, prominent forehead, later fontanel closure
- Hypertelorism
- Polydactyly of the hands (postaxial) and feet (preaxial)
- Partial membranous syndactyla of the fingers & toes II-V
rarely additional bar deficiency , other anomalies of the brain.
Differential diagnosis
The following are to be distinguished:
- Acrocallosal Syndrome
- Mohr syndrome
- Gorlin-Goltz Syndrome
- Carpenter syndrome
- Teebi-type hypertelorism
- Pallister Hall Syndrome
Prospect of healing
There is a slightly higher risk of mentally retarded development.
literature
- J. Mücke, KR Sandig: Greig syndrome. In: Pediatric Practice. Vol. 53, No. 2, February 1985, pp. 89-91, ISSN 0023-1495 . PMID 3921750 .
- LG Biesecker: The Greig cephalopolysyndactyly syndrome. In: Orphanet Journal of Rare Diseases. Vol. 3, 2008, p. 10, ISSN 1750-1172 . doi: 10.1186 / 1750-1172-3-10 . PMID 18435847 . PMC 2397380 (free full text). (Review).
Individual evidence
- ↑ a b c d B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
- ^ Who named it Greig's Syndrome
- ^ DM Greig: Hypertelorism. A hitherto undifferentiated congenital cranio-facial deformity. In: Edinburgh Medical Journal , 1924, Vol. 31, pp. 560-593.
- ^ Who named it Greig
- ↑ DM Greig: Oxycephaly. Edinburgh Medical Journal, 1926, Vol. 33, pp. 189-218.
- ↑ D. Hootnick, LB Holmes: Familial polysyndactyly and craniofacial anomalies. In: Clinical Genetics , Copenhagen, 1972, Vol. 3, pp. 128-134.
- ↑ a b c d e Greig syndrome. In: Orphanet (Rare Disease Database).
Web links
- Greig syndrome. In: Online Mendelian Inheritance in Man . (English)
