Oro-facio-digital syndrome type 8
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The orofacio-digital syndrome type 8 or ( OFD VIII ) is a very rare congenital disease with a combination of malformations of the tongue , cleft lip , hypertelorism , skeletal malformations such as polydactyly , short stature and a tendency to respiratory infections and belongs to the orofazio-digital Syndromes .
Synonyms are: orofacio-digital syndrome of the Edwards type; Edwards Syndrome; OFD8
The name refers to the first description from 1988 by the doctors Matthew Edwards, Des Mulcahy and Gillian Turner.
The syndrome should not be confused with Edwards syndrome (trisomy 18).
Spread and cause
The frequency is given as less than 1 in 1,000,000, so far a family has been described. Inheritance is presumably X chromosomal - recessive . The cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Manifestation in infancy or neonatal age
- Facial dysmorphism with lobed tongue, median cleft upper lip, noticeable tip of the nose, hypertelorism
- bilateral polydactyly, malformations of the tibia and / or the radius , double big toes
- Short stature
- Hypoplasia of the epiglottis
- Tendency to develop respiratory infections.
Differential diagnosis
Other forms of orofacio-digital syndrome must be distinguished.
Individual evidence
- ↑ a b c Oro-facio-digital syndrome type 8. In: Orphanet (database for rare diseases).
- ↑ M. Edwards, D. Mulcahy, G. Turner: X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. In: Clinical genetics. Vol. 34, No. 5, November 1988, pp. 325-332, PMID 3229001 .
Web links
- Orofaciodigital syndrome VIII. In: Online Mendelian Inheritance in Man . (English)
