Mesomelic dysplasia Verloes-David-Pfeiffer type
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
The Mesomelic dysplasia Verloes David Pfeiffer is a very rare congenital skeletal dysplasia and one of the mesomelic dysplasia . The main hallmarks are additional acral synostoses .
Synonyms are mesomelia synostosis syndrome , Verloes-David syndrome , monosomy 8q13 or Del (8) q (13) .
The name refers to the eponymous authors of two independent case descriptions from 1995 by the Belgian human geneticist Alain Verloes and the French pediatrician and human geneticist Albert David as well as the German human geneticist Rudolf Arthur Pfeiffer (1931–) and the German orthodontist H. Hirschfelder .
distribution
The frequency is given as less than 1 in 1,000,000, and about 5 patients have been reported to date. The inheritance is autosomal dominant .
root cause
The disease is based on mutations at location 8q13. The SULF1 gene and the SLCO5A1 gene are affected . .
Clinical manifestations
Diagnostic criteria are:
- Manifestation only in the course of skeletal growth with slow progress
- Deformity of the forearms and lower legs with development of a mesomelia , ulnar deviation of the hand and moderate short stature , more rarely also elbow aplasia
- Intracarpal and intratarsal fusion, brachydactyly , restriction of joint mobility
- Facial abnormalities with ptosis , hypertelorism , missing uvula , moderate micrognathia
In addition, congenital heart defects and urogenital malformations can occur.
Diagnosis
The diagnosis results from the clinical and radiological findings and can be confirmed cytogenetically . In the X-ray image there is a Brachymetatarsie and Brachymetacarpie in the third and fifth beam synostoses, partial mergers of the hand and tarsal bones , bending in the distal femur and the appearance of moderate vertebral changes . The 8q13 microdeletion can already be detected prenatally , while the skeletal changes cannot yet be noticeable in fine ultrasound .
Differential diagnosis
A distinction from the femur-fibula-ulna syndrome and mesomelic dysplasia type Reinhardt-Pfeiffer is essential even prenatally ; after birth, other forms of mesomelic dysplasia must also be differentiated. Synostoses can also be found in mesomelic dysplasia of the Kantaputra type and Nievergelt syndrome .
Not to be confused with mesomelia synostosis syndrome .
treatment
A causal therapy is not known.
forecast
Life expectancy is normal.
Individual evidence
- ↑ a b c d Mesomelic dysplasia type Verloes-David-Pfeiffer. In: Orphanet (Rare Disease Database).
- ^ A. Verloes, A. David: Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis. In: American journal of medical genetics. Vol. 55, No. 2, January 1995, ISSN 0148-7299 , pp. 205-212, doi: 10.1002 / ajmg.1320550211 , PMID 7717419 .
- ^ RA Pfeiffer, H. Hirschfelder, HD Rott: Specific acromesomelia with facial and renal anomalies: a new syndrome. In: Clinical dysmorphology. Vol. 4, No. 1, January 1995, ISSN 0962-8827 , pp. 38-43, PMID 7735504 .
- ↑ MESOMELIA SYNOSTOSIS SYNDROME. In: Online Mendelian Inheritance in Man . (English)
- ↑ B. Isidor, A. Hamel, F. Plasschaert, L. Claus, JM Mercier, GR Mortier, JG Leroy, A. Verloes, A. David: Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. In: American journal of medical genetics. Part A. Volume 149A, number 10, October 2009, ISSN 1552-4833 , pp. 2220-225, doi: 10.1002 / ajmg.a.32926 , PMID 19725128 .
literature
- B. Isidor, O. Pichon, R. Redon, D. Day-Salvatore, A. Hamel, KA Siwicka, M. Bitner-Glindzicz, D. Heymann, L. Kjellén, C. Kraus, JG Leroy, GR Mortier, A Rauch, A. Verloes, A. David, C. Le Caignec: Mesomelia -synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. In: American Journal of Human Genetics . Vol. 87, No. 1, July 2010, ISSN 1537-6605 , pp. 95-100, doi: 10.1016 / j.ajhg.2010.05.012 , PMID 20602915 , PMC 2896765 (free full text).
