Schneckenbecken dysplasia
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| Schneckenbecken dysplasia | |
|---|---|
| Other names | Chondrodysplasia lethal neonatal with snail like pelvis[1] |
 | |
| This condition is inherited following an autosomal recessive manner. | |
| Specialty | Medical genetics |
| Symptoms | Short-limbed dwarfism and prenatal death associated with various other radiological anomalies |
| Complications | Prenatal death |
| Usual onset | Birth |
| Duration | Pregnancy |
| Causes | Genetic mutation |
| Diagnostic method | Genetic testing, ultrasound, autopsy |
| Prevention | none |
| Prognosis | Poor |
| Frequency | rare, about 20 cases have been described |
| Deaths | all cases of Schneckenbecken dysplasia have been dead fetuses. |
Schneckenbecken dysplasia is a rare pre-natally fatal hereditary autosomal recessive condition which affects the bones and pre-natal growth.
Complications
Fetuses with the condition typically have a hypoplastic iliac bone which resembles a snail, short ribs, short neck, shortened and widened (dysplastic) fibula bones, premature ossification of the tarsus, shortened and broadened long bones which resemble a dumbbell, hypoplastic and flattening vertebrae, macrocephaly, dolichocephaly, toenail hypoplasia, flattening of the malar prominence, and micromelic (short-limbed) dwarfism.[2][3][4]
Fetuses homozygous for this condition typically die before being born, and because of this they don't usually live to experience the complications of the disease.[5]
Genetics
This condition is typically caused by loss-of-function mutations in the SLC35D1 gene, located in chromosome 1. These mutations are inherited in an autosomal recessive manner.[6]
Diagnosis
This condition can be diagnosed through the following methods:[citation needed]
- Ultrasound (due to its prenatally fatal nature)
- Whole genome sequencing
- Physical examination
- Post-mortem autopsy
Treatment
There is no cure for this disorder, and attempted treatment will always be ineffective due to this condition's lethal nature.[7]
Prevalence
History
This condition was first discovered in 1986 by Knowles et al. when they described 5 fetuses born to a consanguineous, first-cousin Asian couple. The couple in question went through 13 pregnancies, these pregnancies consisted of 4 successful pregnancies which resulted in healthy children, 5 pregnancies which resulted in dead dwarf babies, 3 pregnancies which ended in miscarriage, and 1 pregnancy which was clinically aborted after the pre-natal detection of dwarfism.[8]
Eponym
This condition is named after the German translation for "snail-pelvis" (Schneckenbecken), this name was first used by Borochowitz et al. when they described a Californian fetus with the symptoms of the disorder and referred to said symptoms as "Schneckenbecken dysplasia".[9]