Familial caudal dysgenesis
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The family caudal dysgenesis is a very rare congenital disease with varying degrees of malformations of the lower body.
Synonyms are: Rudd-Klimek syndrome; Renal dysplasia-megacystis-sirenomelia syndrome; Selig-Benacerraf-Greene Syndrome
The image ranges from single umbilical artery , anal atresia to sirenomelia . The disease may be related to Currarino's syndrome .
A special form is the renal dysplasia-megacystis-sirenomelia syndrome (Selig-Benacerraf-Greene syndrome)
The name refers to the first authors of the first description from 1990 by the Canadian pediatricians NL Rudd and ML Klimek.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
A genetic defect has not yet been found. The cause is assumed to be a developmental disorder during embryogenesis .
Clinical manifestations
Clinical criteria are:
- Anal atresia
- Rectovaginal fistula
- Analectopy
- Sacral hypoplasia, sacralagenesis, lymbalagenesis
- additional malformations of the genitourinary system , elements of the VACTERL association and facial dysmorphism
Heart defects and skeletal changes such as kyphosis or pelvic malformations can also occur.
diagnosis
The diagnosis results from the combination of clinical and radiological findings.
Differential diagnostics
A distinction must be made between the Currarino syndrome and the caudal regression syndrome .
literature
- MZ Seidahmed, OB Abdelbasit, KA Alhussein, AM Miqdad, MI Khalil, MA Salih: Sirenomelia and severe caudal regression syndrome. In: Saudi medical journal. Volume 35 Suppl 1, December 2014, pp. S36-S43, PMID 25551110 , PMC 4362094 (free full text).
- AJ Green, RN Sandford, BC Davison: An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. In: Journal of Medical Genetics . Volume 33, Number 7, July 1996, pp. 594-596, doi : 10.1136 / jmg.33.7.594 , PMID 8818947 , PMC 1050669 (free full text).
Individual evidence
- ↑ a b c Dysgenesis, familial caudal. In: Orphanet (Rare Disease Database).
- ↑ Renal dysplasia-megacystis-sirenomelia syndrome. In: Orphanet (Rare Disease Database).
- ↑ NL Rudd, ML Klimek: Familial caudal dysgenesis: evidence for a major dominant gene. In: Clinical genetics. Volume 38, Number 3, September 1990, pp. 170-175, doi : 10.1111 / j.1399-0004.1990.tb03567.x , PMID 2225526 .
