Rodent syndrome

Classification according to ICD-10
Q75.4	Mandibulofacial dysostosis
ICD-10 online (WHO version 2019)

The rodent syndrome is a very rare congenital malformation syndrome belonging to the acrofacial dysostosis with the main features of limb defects - defects in the acres and lower jaw - accentuated in the face (mandibulo-facial dystosis).

Synonyms are: AFD1 type rodent ; Acrofacial dysostosis, rodent type; Acrodysostosis, preaxial; Acrofacial dysostosis, rodent type; Mandibulofacial dysostosis with pre-axial limb anomalies; NAFD; Rodent (de) Reynier syndrome

The name refers to the first authors of the first description from 1948 by the Swiss ENT doctor Felix Robert Nager and the French doctor Jean Pierre de Reynier (* 1914)

distribution

The frequency is unknown; more than 100 patients have been reported to date. Most of the inheritance is autosomal dominant .

root cause

The disease is based on mutations in the SF3B4 gene at locus 1q21.2, which codes for a component of the splicing mechanism , in around half of those affected .

Clinical manifestations

Clinical criteria are:

Facial findings of the Treacher-Collins syndrome (Franceschetti syndrome) combined with reduction malformations of the radial ray:

Mandibulofacial dysostosis with facial and atypical palpebral fissures , ptosis , coloboma of the lower lid, lack of eyelashes , hypoplasia of the zygomatic bone and the upper jaw , choanal atresia , cleft palate
Hypo- , aplasia or multiple limbs (triphalangeal) of the thumb
Radioulnar synostosis
Radial aplasia
Abnormalities of the ribs or vertebrae
Conductive hearing loss
rarely malformation of the tibia

Diagnosis

The diagnosis results from the clinical examination and diagnostic imaging , the diagnosis is confirmed by detecting the mutation in the SF3B4 gene. A prenatal diagnosis can be suspected by fine ultrasound and confirmed by molecular genetics.

Differential diagnosis

The following are to be distinguished:

other forms of mandibulofacial dysostosis such as Treacher-Collins syndrome
and acrofacial dysostoses such as AFD type Catania , AFD type Patagonia , AFD type Genee-Wiedemann , AFD type Rodriquez
Mandibulo-Facial Dysostosis-Microcephaly Syndrome
Goldenhar Syndrome

Treatment and prognosis

Treatment is symptomatic, initially against neonatal dyspnoea caused by tracheostomy and nutritional problems caused by gastrostomy .

literature

S. Dammert, M. Funke, HA Merten: Radiological diagnostics in rodent syndrome. In: RöFo: Advances in the field of X-rays and nuclear medicine . Vol. 173, No. 12, December 2001, pp. 1147-1148, doi: 10.1055 / s-2001-18884 , PMID 11740677 .
C. Opitz, C. Stoll, P. Ring: Nager syndrome. Problems and possibilities of therapy. In: Journal of orofacial orthopedics = progress in orthodontics: Organ / official journal German Society for Orthodontics. Vol. 61, No. 4, 2000, pp. 226-236, PMID 10961048 (Review).

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 ^d ^e Rodent Syndrome. In: Orphanet (Rare Disease Database).
↑ Who named it rodents
↑ Who named it deReynier
^ FR Nager, JP de Reynier: The hearing organ in congenital head malformations. In: Practica oto-rhino-laryngologica (Basel) , Vol. 10 (suppl. 2), 1948, pp. 1–128.
↑ Acrofacial dysostosis 1, rodent type. In: Online Mendelian Inheritance in Man . (English)
^ IC Bay Lund, EM Vestergaard, R. Christensen, N. Uldbjerg, N. Becher: Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray. In: European journal of medical genetics. [Electronic publication before printing] December 2015, doi: 10.1016 / j.ejmg.2015.12.001 , PMID 26679067 .
↑ Mandibulo-facial dysostosis-microcephaly syndrome. In: Orphanet (Rare Disease Database).
^ Y. Lansinger, G. Rayan: Nager syndrome. In: The Journal of hand surgery. Vol. 40, No. 4, April 2015, pp. 851-854, doi: 10.1016 / j.jhsa.2014.10.064 , PMID 25543163 (review).

[Leiber-1] 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 .

[Orpha-2] Rodent Syndrome. In: Orphanet (Rare Disease Database).

[3] Who named it rodents

[4] Who named it deReynier

[5] FR Nager, JP de Reynier: The hearing organ in congenital head malformations. In: Practica oto-rhino-laryngologica (Basel) , Vol. 10 (suppl. 2), 1948, pp. 1–128.

[6] Acrofacial dysostosis 1, rodent type. In: Online Mendelian Inheritance in Man . (English)

[7] IC Bay Lund, EM Vestergaard, R. Christensen, N. Uldbjerg, N. Becher: Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray. In: European journal of medical genetics. [Electronic publication before printing] December 2015, doi: 10.1016 / j.ejmg.2015.12.001 , PMID 26679067 .

[8] Mandibulo-facial dysostosis-microcephaly syndrome. In: Orphanet (Rare Disease Database).

[9] Y. Lansinger, G. Rayan: Nager syndrome. In: The Journal of hand surgery. Vol. 40, No. 4, April 2015, pp. 851-854, doi: 10.1016 / j.jhsa.2014.10.064 , PMID 25543163 (review).