Otofacio-cervical syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The oto-facio-cervical syndrome (from ancient Greek οὖς ous , genitive ὠτός ōtós , " ear " and Latin facies " face " and cervix " neck ") is a very rare congenital disease with a combination of facial dysmorphia , conductive hearing loss and fistulas mostly before Ear.
Synonyms are: Fara-Chlupácková syndrome; English Otofaciocervical Syndrome 1; OTFCS, OFC; OFC1
The name refers to the first authors of the first description from 1967 by the Czech facial surgeon Miroslav Fara and colleagues.
distribution
The frequency is unknown; the inheritance is autosomal dominant .
root cause
The disease are mutations in EYA1 - gene on chromosome 8 locus q13.3 basis.
Clinical manifestations
Clinical criteria are:
- Pronounced conductive hearing loss on both sides
- large, protruding, deep-seated auricles , possibly microtia , preauricular fistula
- Facial abnormalities with an elongated face, hypertelorism , sunken nasal root, narrow nose, hypoplastic lower jaw , neck fistulas
- long neck , sloping shoulders , pterygias , scapula alata , clavicle shifted caudally
- slight intellectual disability
Differential diagnosis
The following are to be distinguished:
- Escher-Hirt Syndrome
- Forney Robinson Pascoe Syndrome
- Fourman-Fourman Syndrome
- Mengel-Konigsmark-Berlin-McKusick syndrome
- Winter-Kohn-Mellman-Wagner syndrome
literature
- S. Rickard, M. Parker, W. van't Hoff, A. Barnicoat, I. Russell-Eggitt, RM Winter, M. Bitner-Glindzicz: Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. In: Human genetics. Vol. 108, No. 5, May 2001, pp. 398-403, PMID 11409867 .
Individual evidence
- ↑ a b c d 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 .
- ↑ Otofacio-cervical syndrome. In: Orphanet (Rare Disease Database).
- ↑ M. Fara, V. Chlupackova, J. Hrivnakova: Dismorphia oto-facio-cervicalis familiaris. in: Acta Chirurgiae Plasticae Vol. 9, pp. 255-268, 1967.
- ↑ Otofaciocervical syndrome. In: Online Mendelian Inheritance in Man . (English)
- ^ Abnormalities of the kidney, genitals and middle ear. In: Orphanet (Rare Disease Database).
