Oto-palato-digital syndrome type 2
| 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 2 (OPD type 2) is a very rare congenital skeletal dysplasia from the spectrum of Oto-palato-digital syndrome . In contrast to OPD type 1 , this type is the much heavier form. Main characteristics are cleft palate , intellectual disability , facial abnormalities like in a trisomy 18 .
Synonyms are: Fitch syndrome; Pseudotrisomy 18; english cranio-oro-digital-syndrome; Otopalatodigital syndrome type 2
The name refers to the first author of the first description from 1976 by the Canadian human geneticist Naomi Fitch and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far more than 40 people have been described. 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 1 , frontometaphyseal dysplasia and Melnick-Needles syndrome .
Clinical manifestations
Clinical criteria are:
- Large anterior fontanel
- Microcephaly , intellectual disability
- Ossification defects
- Cleft palate
- Facial abnormalities as in trisomy 18 : broad forehead, hypertelorism , antimongoloid eyelid position, hypoplasia of the midface, microstomy , micrognathia , deeply attached auricles
- Camptodactyly , short metacarpals , partial syndactyly of the fingers, postaxial polydactyly , thumb hypoplasia
- Bending of the tibia and femur , Fibulahypoplasie, abnormal position of the toes to short big toe to long 2nd toe
In addition, malformations of the CNS, heart or urogenital tract can occur.
literature
- S. Sankararaman, D. Kurepa, Y. Shen, V. Kakkilaya, S. Ursin, H. Chen: Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation. In: Journal of pediatric genetics. Vol. 2, No. 1, March 2013, pp. 33-36, doi: 10.3233 / PGE-13045 , PMID 27625837 , PMC 5020956 (free full text).
- A. Mariño-Enríquez, P. Lapunzina, SP Robertson, JI Rodríguez: Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G> T mutation: clinical, pathological, and molecular findings. In: American journal of medical genetics. Part A. Vol. 143A, No. 10, May 2007, pp. 1120-1125, doi: 10.1002 / ajmg.a.31696 , PMID 17431908 .
Individual evidence
- ↑ 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 .
- ↑ a b c Oto-palato-digital syndrome type 2. In: Orphanet (database for rare diseases).
- ↑ N. Fitch, S. Jequier, A. Papageorgiou: A familial syndrome of cranial, facial, oral and limb anomalies. In: Clinical genetics. Vol. 10, No. 4, October 1976, pp. 226-231, PMID 975599 .
- ↑ Otopalatodigital syndrome, type II. In: Online Mendelian Inheritance in Man . (English)
