Oto-palato-digital syndrome type 1
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Oto-palato-digital syndrome type 1 (OPD type 1) is a very rare congenital skeletal dysplasia from the spectrum of Oto-palato-digital syndrome . In contrast to OPD type 2 , this type is the mildest form. Main characteristics are cleft palate , mild mental retardation , hearing loss , facial abnormalities and wide phalanges and nails.
Synonyms are: Taybi syndrome; OPD syndrome 1; english cranioorodigital syndrome; faciopalatoosseous syndrome; FPO
The name refers to the first authors of the first description from 1962 by the American radiologist Hooshang Taybi.
The syndrome is not to be confused with Rubinstein-Taybi syndrome .
distribution
The frequency is given as less than 1 in 1,000,000, and more than 100 patients have been reported to date. Inheritance is X-linked dominant .
root cause
The disease are mutations in FLNA - gene on chromosome X locus q28 based on that for Filamin encoding A.
Changes in this gene can also be found in: Oto-palato-digital syndrome type 2, frontometaphyseal dysplasia and Melnick-Needles syndrome .
Clinical manifestations
Clinical criteria are:
- Short stature
- mental disability
- Conductive hearing loss
- Cleft palate
- short and wide distal phalanges and nails on fingers and toes, especially in the first ray, abnormal position, partial syndactyly of toes
- Plump facial expression with hypertelorism , antimongoloid lid axis, hypoplasia of the nose and midface, partially missing teeth, deep-seated auricles
- Short trunk , funnel chest , hip dislocation , limited extensibility of the elbow and knee joint , possibly subluxation of the radial head
diagnosis
There are characteristic signs in the X-ray image :
- Hyperostosis of the frontal bone and the steeply positioned skull base , absence of the frontal sinus and sphenoid sinus , later closure of the large fontanel
- Vertebral malformations with spina bifida occulta
- Pelvic dysplasia
- shortened Metakapalia III-V, fusion of the capitate bone and the hamate , pseudoepiphyses
- Long curved tubular bones , missing fibula , splayed toes, campto- , syn- , polydactyly
Differential diagnosis
To be distinguished are: OPD type 2 , Larsen syndrome and Cornelia de Lange syndrome .
literature
- T. Kosho, T. Uemura, M. Tanimura, H. Ohashi, K. Muroya, T. Ogata: Refined mapping of the gene for otopalatodigital syndrome type I. In: Journal of medical genetics. Vol. 39, No. 2, February 2002, p. E7, PMID 11836376 , PMC 1735041 (free full text).
- H. Suzumura, K. Kano, G. Nishimura: Hypoplasia of the transverse sinus in oto-palato-digital syndrome type I. In: American journal of medical genetics. Vol. 79, No. 5, October 1998, pp. 401-402, PMID 9779811 .
Individual evidence
- ↑ a b c 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 .
- ↑ a b c Oto-palato-digital syndrome type 1. In: Orphanet (database for rare diseases).
- ↑ H. Taybi: Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 88, September 1962, pp. 450-457, PMID 13919903 .
- ↑ Otopalatodigital syndrome, type I. In: Online Mendelian Inheritance in Man . (English)
