Schneckenbecken dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: SLC35D1-CDG
CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
Chondrodysplasia with snail-like pelvis
Number of Symptoms 45
OrphanetNr: 3144
OMIM Id: 269250
ICD-10: Q77.7
UMLs: C0432194
MeSH: C536637
MedDRA:
Snomed: 254049009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation-related bone disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
 -Rare genetic disease
Spondylodysplastic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
5
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
6
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
7
 (HPO:0000272) Malar flattening 277 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
10
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
11
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
12
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
13
 (HPO:0008108) Advanced tarsal ossification 4 / 7739
14
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
15
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
16
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
17
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
18
 (HPO:0001850) Abnormality of the tarsal bones Occasional [Orphanet] 40 / 7739
19
 (HPO:0004233) Advanced ossification of carpal bones 14 / 7739
20
 (HPO:0000773) Short ribs 70 / 7739
21
 (HPO:0000940) Abnormal diaphysis morphology Occasional [Orphanet] 41 / 7739
22
 (HPO:0003180) Flat acetabular roof 25 / 7739
23
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
24
 (HPO:0000947) Dumbbell-shaped long bone 5 / 7739
25
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
26
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
27
 (HPO:0000907) Anterior rib cupping 12 / 7739
28
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
29
 (HPO:0000895) Lateral clavicle hook 11 / 7739
30
 (HPO:0005616) Accelerated skeletal maturation Occasional [Orphanet] 46 / 7739
31
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
32
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
33
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
34
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
35
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
36
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
37
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
38
 (MedDRA:10072883) Brachydactyly 153 / 7739
39
 (HPO:0011800) Midface retrusion 221 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (OMIM) Sacral stenosis 1 / 7739
42
 (OMIM) Snail-shaped ilia 1 / 7739
43
 (HPO:0003826) Stillbirth 40 / 7739
44
 (OMIM) Dumbbell-shaped short long bones 1 / 7739
45
 (OMIM) Short, splayed ribs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In an Asian family, Knowles et al. (1986) reported a first-cousin marriage that resulted in 13 pregnancies; 4 of the offspring (2 male; 2 female) were normal and 5 were stillborn, short-limbed dwarfs; 3 pregnancies resulted in miscarriage ...
Molecular genetics OMIM Because of phenotypic similarities between the Slc35d1 knockout mouse and Schneckenbecken dysplasia, Hiraoka et al. (2007) screened 6 affected patients for SLC35D1 mutations and identified mutations in 2. One patient, who was first described by Nikkels et al. ...