Marshall Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Marshall syndrome is a rare hereditary syndrome with the main features of ocular abnormalities, sensorineural hearing loss , facial malformations and anhidrotischer ectodermal dysplasia .
The name refers to the author of the first report from 1958 by the American ophthalmologist Don Marshall (* 1905).
The syndrome should not be confused with Marshall-Smith (-Weaver-) syndrome with accelerated skeletal maturation and failure to thrive.
distribution
The frequency is given as less than 1 in 1,000,000, so far about 12 families have been described. Inheritance is autosomal dominant with complete penetrance .
root cause
The disease are mutations in COL11A1 - gene at the location 1p21.1 based encoding the alpha-1 chain of type XI collagen.
Clinical manifestations
Clinical criteria are:
- Characteristic middle facial dysplasia "bulldog face" (small saddle nose with nostrils pointing forward),
- Other facial features: prominent bulge above the eye, brachycephaly , hypertelorism , epicanthus , microgenius , long philtrum
- Eye abnormalities, large-looking, myopia , cataracts , glaucoma , tendency to dislocate lenses
- Sensorineural hearing loss progressive sensoneurally
- Tooth abnormalities such as microdontics
- Short stature
- Possibly hypotrichosis and hypohidrosis
diagnosis
Typical changes in the X-ray are:
- Hypoplasia of the maxilla, nasal bones and frontal sinuses
- Thick skull bones, intracranial calcifications
- Narrow joint space with osteophytes on the hip and knee joint
Differential diagnosis
The Stickler syndrome and the Zellweger syndrome are to be distinguished .
literature
J. Priya, S. Joshi: Marshall syndrome. In: Indian pediatrics. Vol. 42, No. 2, February 2005, pp. 177-178, PMID 15767717 .
Individual evidence
- ↑ a b c d Marshall Syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b 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 .
- ↑ D. MARSHALL: Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. In: American journal of ophthalmology. Vol. 45, No. 4 Pt 2, April 1958, pp. 143-156, PMID 13520885 .
- ↑ Marshall-Smith Syndrome. In: Orphanet (Rare Disease Database).
- ^ Marshall syndrome. In: Online Mendelian Inheritance in Man . (English)
