MCID: SPN365
MIFTS: 22

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 57 72
Casamassima-Morton-Nance Syndrome 57 59
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome 59
Cmn Syndrome 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spondylocostal dysostosis with anal atresia and urogenital anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 271520
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1849069
Orphanet 59 ORPHA94095
MedGen 42 C1849069
UMLS 72 C1849069

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, testes and bone, and related phenotypes are short neck and skeletal dysplasia

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:

# 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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
3 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
4 persistent cloaca 59 32 hallmark (90%) Very frequent (99-80%) HP:0012621
5 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
6 disproportionate short-trunk short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003521
7 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
8 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
9 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
10 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
11 hemivertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0002937
12 rib fusion 59 32 frequent (33%) Frequent (79-30%) HP:0000902
13 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
14 vertebral fusion 59 32 frequent (33%) Frequent (79-30%) HP:0002948
15 urethral atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000068
16 aplasia of the uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000151
17 11 pairs of ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000878
18 absent external genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000042
19 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
20 hypertelorism 32 HP:0000316
21 inguinal hernia 32 HP:0000023
22 dolichocephaly 32 HP:0000268
23 thin ribs 32 HP:0000883
24 abnormality of the urinary system 59 Occasional (29-5%)
25 missing ribs 32 HP:0000921
26 block vertebrae 32 HP:0003305
27 abdominal distention 32 HP:0003270
28 pulmonary hypoplasia 32 HP:0002089
29 single umbilical artery 32 HP:0001195
30 short ribs 32 HP:0000773
31 aplasia of the vagina 32 HP:0003250
32 supernumerary vertebrae 32 HP:0002946

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Skeletal Spine:
scoliosis
hemivertebrae
block vertebrae
supernumerary vertebrae
fused vertebrae
more
Head And Neck Head:
dolichocephaly

Abdomen Gastrointestinal:
anal atresia

Abdomen External Features:
abdominal distention

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

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

Genitourinary Internal Genitalia Male:
intraabdominal testes

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia
absent external genitalia

Genitourinary Kidneys:
hydronephrosis

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:

41
Uterus, Testes, Bone, Heart

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

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

# Title Authors PMID Year
1
Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation. 38 8
9880219 1998
2
Congenital heart disease in spondylothoracic dysostosis: two familial cases. 8
7473656 1995
3
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. 8
7246601 1981
4
Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype. 38
26367183 2016
5
A fetus diagnosed with Casamassima-Morton-Nance syndrome with de novo del(8)(p23.1). 38
21413036 2011
6
Prenatal clinical characteristics of Casamassima-Morton-Nance syndrome. 38
19090487 2009
7
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....