Spondylocostal dysostosis - anal and genitourinary malformations

General Information (adopted from Orphanet):

Synonyms, Signs: CMN SYNDROME
casamassima-morton-nance syndrome
Number of Symptoms 41
OrphanetNr: 94095
OMIM Id: 271520
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease
Syndromic uterovaginal malformation
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000042) Absent external genitalia 3 / 7739
2
 (HPO:0000022) Abnormality of male internal genitalia Frequent [Orphanet] 5 / 7739
3
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
4
 (HPO:0000126) Hydronephrosis 119 / 7739
5
 (HPO:0003250) Aplasia of the vagina 6 / 7739
6
 (HPO:0000068) Urethral atresia 8 / 7739
7
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
8
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
9
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
10
 (HPO:0000151) Aplasia of the uterus 12 / 7739
11
 (HPO:0000795) Abnormality of the urethra Frequent [Orphanet] 38 / 7739
12
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
13
 (HPO:0000316) Hypertelorism 644 / 7739
14
 (HPO:0000268) Dolichocephaly 144 / 7739
15
 (HPO:0000470) Short neck 345 / 7739
16
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
17
 (HPO:0000883) Thin ribs 31 / 7739
18
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
19
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
20
 (HPO:0002937) Hemivertebrae 41 / 7739
21
 (HPO:0000902) Rib fusion 19 / 7739
22
 (HPO:0002946) Supernumerary vertebrae 3 / 7739
23
 (HPO:0003305) Block vertebrae 7 / 7739
24
 (HPO:0000773) Short ribs 70 / 7739
25
 (HPO:0002948) Vertebral fusion 28 / 7739
26
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
27
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
28
 (HPO:0001195) Single umbilical artery 23 / 7739
29
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
30
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
31
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
32
 (HPO:0003270) Abdominal distention 46 / 7739
33
 (HPO:0000023) Inguinal hernia 181 / 7739
34
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
35
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
36
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
37
 (OMIM) Intraabdominal testes 1 / 7739
38
 (OMIM) Short, thin ribs 4 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
41
 (OMIM) Vertebral agenesis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In an inbred Mennonite sibship, Casamassima et al. (1981) described 2 brothers with severe vertebral and costal dysplasia of the type variously called spondylothoracic dysplasia, costovertebral dysplasia, or the Jarcho-Levin syndrome (277300). By x-ray, the thorax has a ...