Multiple pterygium syndrome
Classification according to ICD-10 | |
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Q79.8 | Other congenital malformations of the musculoskeletal system |
ICD-10 online (WHO version 2019) |
With multiple pterygium syndrome ( multiple pterygium syndrome ) congenital disease with a combination of numerous distinct be pterygium (wing skins) designated by other malformations.
A distinction is currently made between the following forms and types:
Autosomal recessive multiple pterygium syndrome
This form is associated with malformations of the fingers such as camptodactyly and syndactyly .
Synonyms are:
- Multiple pterygium syndrome, non-lethal type
- Escobar variant
- Escobar variant of multiple pterygium syndrome (EVMPS)
- Pterygium syndrome
- Pterygium colli syndrome
- Pterygium universale
This disease was first described by JA Bussière in 1902 , and it was established as an independent syndrome in 1978 by the American human geneticist Victor Escobar , after whom it is also known as Escobar syndrome .
Epidemiology
Inheritance is autosomal - recessive .
clinic
Diagnostic criteria are:
- Facial dysmorphism with ptosis , downwardly extending lid axes, telekanthus , prominent nasal roots, deep neck hairline, narrow ear canal, microgenius
- Short stature , hearing loss
- Pterygias in various places, especially neck, armpit, antecubital, popliteal, on the fingers, between the chin and sternum; Camptodactyly, clubfoot , partial syndactyla, scoliosis with vertebral malformations , rib anomalies
- Genital malformations , absence of the labia minora, cryptorchidism
- abnormal dermatoglyphs with diminished hand furrows
Differential diagnosis
The Frias syndrome is to be distinguished .
Popliteal pterygium syndrome, lethal type
In this type, the pterygias are only in the hollows of the knees.
Synonyms are:
- Fatal Popliteal Pterygium Syndrome
- Bartsocas-Papas Syndrome (BPS)
- Multiple pterygium syndrome Aslan type
The proper names refer to descriptions from 1972 and 2000.
clinic
Clinically, there are multiple wing skin in the hollows of the knees, glued eyelids after birth (ankyloblepharon), cleft lip and palate and syndactyla .
forecast
Life expectancy is low, but there have been reports of reaching childhood and adolescence.
Autosomal dominant multiple pterygium syndrome
Epidemiology
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
clinic
The clinical abnormalities include ptosis and pronounced scoliosis, but seem to be variable: in milder forms with similarities to distal arthrogryposis type IIb , in more severe forms more like Escobar's syndrome .
Multiple pterygium syndrome type Frias
Combination with ptosis and skeletal abnormalities, but no short stature. Possibly identical to above Autosomal Dominant Multiple Pterygium Syndrome .
Synonym: Frias syndrome
Epidemiology
The inheritance is autosomal dominant .
Fatal multiple pterygium syndrome
This heterogeneous syndrome has multiple pterygias with restricted mobility combined with malformations of the skull, neck, face, vertebrae and genitals.
Epidemiology
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive or X-linked - recessive . Various genetic defects have been described so far.
clinic
Clinically conspicuous are numerous pterygias at various locations with flexion contractures that are reminiscent of arthrogryposis , short stature already existing at birth , tendency to edema ranging from subcutaneous edema to fetal hydrops , and facial malformations such as hypertelorism , epicanthus , flat nasal root, microstomy .
Depending on the bony changes in the x-ray , two forms can be distinguished with fusions of the spinous processes of the vertebral bodies or with fusions of the long bones.
Differential diagnosis
The fetal akinesia sequence ( Pena-Shokeir syndrome I ) has to be differentiated.
Lethal X-Linked Multiple Pterygium Syndrome
Synonym: Multiple Pterygium Syndrome, X-Linked
So far, only a few observations have been made for this form.
See also
literature
- JA Bussière: L'homme au cou de Chapelle, developpement anormal d'un faisceau musculaire acromiomastoidienne rudimentaire, malformation congénitale rare, observé à Pondicherry (index orientales). 1902 in: Annales d'hygiène et de médecine coloniales 5, pp. 686–688.
- J. Böckel, F. Grassl, RA Pfeiffer, KW Ruprecht, E. Heidbreder: Congenital ptosis: a characteristic of the syndrome of multiple pterygias and arthrogryposes. In: Clinical monthly sheets for ophthalmology. Volume 185, Number 2, August 1984, pp. 123-125, ISSN 0023-2165 . doi: 10.1055 / s-2008-1054583 . PMID 6482294 .
- RL Bissinger, FR Koch: Nonlethal multiple pterygium syndrome: Escobar syndrome. In: Advances in neonatal care: official journal of the National Association of Neonatal Nurses. Volume 14, Number 1, February 2014, pp. 24-29, ISSN 1536-0911 . doi: 10.1097 / ANC.0000000000000039 . PMID 24472885 .
Web links
Individual evidence
- ↑ Multiple pterygium syndrome. In: Orphanet (Rare Disease Database).
- ↑ MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT. In: Online Mendelian Inheritance in Man . (English)
- ^ V. Escobar, D. Bixler, S. Gleiser, DD Weaver, T. Gibbs: Multiple pterygium syndrome. In: American journal of diseases of children (1960). Volume 132, Number 6, June 1978, pp. 609-611, ISSN 0002-922X . PMID 655146 .
- ^ 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
- ↑ Multiple pterygium syndrome, autosomal recessive. In: Orphanet (Rare Disease Database).
- ^ Who named it Escobar's syndrome
- ↑ CS Bartsocas, CV Papas: Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. In: Journal of medical genetics. Volume 9, Number 2, June 1972, pp. 222-226, ISSN 0022-2593 . PMID 4339984 . PMC 1469049 (free full text).
- ↑ Y. Aslan, E. Erduran, N. Kutlu: Autosomal recessive multiple pterygium syndrome: a new variant? In: American journal of medical genetics. Volume 93, Number 3, July 2000, pp. 194-197, ISSN 0148-7299 . PMID 10925380 .
- ↑ POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE. In: Online Mendelian Inheritance in Man . (English)
- ^ Aslan multiple pterygium syndrome. In: Orphanet (Rare Disease Database).
- ↑ Multiple pterygium syndrome, autosomal dominant. In: Orphanet (Rare Disease Database).
- ↑ arthrogryposis, DISTAL, TYPE 5. In: Online Mendelian Inheritance in Man . (English)
- ↑ arthrogryposis, DISTAL, TYPE 8. In: Online Mendelian Inheritance in Man . (English)
- ^ Who named it Frias' syndrome
- ↑ Jaime L. Frias, JR Holahan, AL Rosenbloom, AH Felman: An autosomal dominant syndrome of multiple pterygium, ptosis, and skeletal anomalities. 1973 in: Fourth International Conference on Birth Defects. Vienna 1973. Excerpta Medica, 19.
- ↑ a b Multiple pterygium syndrome, lethal forms. In: Orphanet (Rare Disease Database).
- ↑ MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE. In: Online Mendelian Inheritance in Man . (English)
- ↑ MULTIPLE PTERYGIUM SYNDROME, X-LINKED. In: Online Mendelian Inheritance in Man . (English)
- ^ A. Carnevale, A. López Hernández, L. De los Cobos: Sindrome de pterygium familiar with probable transmission dominante ligada al cromosoma X. In: Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición. Volume 25, Number 3, 1973 Jul-Sep, pp. 237-244, ISSN 0034-8376 . PMID 4757629 .
- ↑ Multiple pterygium syndrome, lethal, X-linked. In: Orphanet (Rare Disease Database).