MCID: SPN365
MIFTS: 23

Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

MalaCards integrated aliases for Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies:

Name: Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 56 71
Casamassima-Morton-Nance Syndrome 56 58
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome 58
Cmn Syndrome 56

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spondylocostal dysostosis with anal atresia and urogenital anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

MalaCards based summary : Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies, also known as casamassima-morton-nance syndrome, is related to spondylocostal dysostosis 3, autosomal recessive and dysostosis. Affiliated tissues include uterus, bone and testes, and related phenotypes are skeletal dysplasia and short neck

More information from OMIM: 271520

Related Diseases for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Diseases related to Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 6, show less)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 10.8
2 dysostosis 10.8
3 anus, imperforate 10.6
4 scoliosis 10.6
5 oligohydramnios 10.6
6 spondylocostal dysostosis, autosomal recessive 10.6

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies:



Diseases related to Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies

Symptoms & Phenotypes for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Human phenotypes related to Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies:

58 31 (showing 32, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
4 persistent cloaca 58 31 hallmark (90%) Very frequent (99-80%) HP:0012621
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 disproportionate short-trunk short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003521
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
9 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
10 hemivertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002937
11 rib fusion 58 31 frequent (33%) Frequent (79-30%) HP:0000902
12 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
13 vertebral fusion 58 31 frequent (33%) Frequent (79-30%) HP:0002948
14 urethral atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000068
15 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
16 aplasia of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000151
17 11 pairs of ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000878
18 absent external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000042
19 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
20 inguinal hernia 31 HP:0000023
21 hypertelorism 31 HP:0000316
22 dolichocephaly 31 HP:0000268
23 abnormality of the urinary system 58 Occasional (29-5%)
24 missing ribs 31 HP:0000921
25 block vertebrae 31 HP:0003305
26 single umbilical artery 31 HP:0001195
27 pulmonary hypoplasia 31 HP:0002089
28 thin ribs 31 HP:0000883
29 abdominal distention 31 HP:0003270
30 short ribs 31 HP:0000773
31 aplasia of the vagina 31 HP:0003250
32 supernumerary vertebrae 31 HP:0002946

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia
absent external genitalia

Head And Neck Neck:
short neck

Head And Neck Head:
dolichocephaly

Genitourinary Kidneys:
hydronephrosis

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Abdomen External Features:
abdominal distention

Chest Ribs Sternum Clavicles And Scapulae:
fused ribs
absent ribs
short, thin ribs

Genitourinary Internal Genitalia Male:
intraabdominal testes

Head And Neck Eyes:
hypertelorism

Skeletal Spine:
scoliosis
hemivertebrae
block vertebrae
supernumerary vertebrae
fused vertebrae
more
Abdomen Gastrointestinal:
anal atresia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Respiratory Lung:
pulmonary hypoplasia

Genitourinary External Genitalia Female:
absent external genitalia

Genitourinary Internal Genitalia Female:
absent uterus
absent vagina

Genitourinary Bladder:
urethral atresia (in males and females)

Clinical features from OMIM:

271520

Drugs & Therapeutics for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies

Genetic Tests for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Anatomical Context for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

MalaCards organs/tissues related to Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies:

40
Uterus, Bone, Testes, Heart

Publications for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Articles related to Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies:

(showing 7, show less)
# Title Authors PMID Year
1
Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation. 56 61
9880219 1998
2
Congenital heart disease in spondylothoracic dysostosis: two familial cases. 56
7473656 1995
3
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. 56
7246601 1981
4
Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype. 61
26367183 2016
5
A fetus diagnosed with Casamassima-Morton-Nance syndrome with de novo del(8)(p23.1). 61
21413036 2011
6
Prenatal clinical characteristics of Casamassima-Morton-Nance syndrome. 61
19090487 2009
7
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? 61
17056308 2007

Variations for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Expression for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Search GEO for disease gene expression data for Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies.

Pathways for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

GO Terms for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

Sources for Spondylocostal Dysostosis with Anal Atresia and Urogenital...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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