Autosomal recessive spondylocostal dysostosis

General Information (adopted from Orphanet):

Synonyms, Signs: Jarcho-Levin syndrome
Number of Symptoms 46
OrphanetNr: 2311
OMIM Id: 277300
608681
609813
613686
ICD-10: Q76.8
UMLs: C0265343
C2931020
MeSH: C535781
C537565
MedDRA:
Snomed: 61367005

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation-related bone disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Disorder of fucoglycosan synthesis
 -Rare genetic disease
Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
3
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
4
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
5
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
6
 (HPO:0000337) Broad forehead Occasional [Orphanet] 116 / 7739
7
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
8
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
9
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
10
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
11
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
12
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
13
 (HPO:0000269) Prominent occiput Occasional [Orphanet] 43 / 7739
14
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
15
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
16
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
17
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
18
 (HPO:0003310) Abnormality of the odontoid process 5 / 7739
19
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
20
 (HPO:0005108) Abnormality of the intervertebral disk Very frequent [Orphanet] 12 / 7739
21
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
22
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
23
 (HPO:0003305) Block vertebrae 7 / 7739
24
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
25
 (HPO:0000902) Rib fusion 19 / 7739
26
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
27
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
28
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
29
 (HPO:0002937) Hemivertebrae 41 / 7739
30
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
31
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
32
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
33
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
34
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
35
 (HPO:0003510) Severe short stature 90 / 7739
36
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
37
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
38
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
39
 (HPO:0010772) Anomalous pulmonary venous return Occasional [Orphanet] 11 / 7739
40
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
41
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
42
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
45
 (HPO:0001522) Death in infancy 275 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: