MCID: HYD052
MIFTS: 23

Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

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

Aliases & Classifications for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

MalaCards integrated aliases for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia:

Name: Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 56
Ferlini-Ragno-Calzolari Syndrome 52 58
Waaler-Aarskog Syndrome 52 58
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome 58
Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 52
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 52
Waaler Aarskog Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
?autosomal dominant

Miscellaneous:
two families reported (last curated february 2013)
all reported patients are female
possible x-linked dominant inheritance


HPO:

31
hydrocephalus, sprengel anomaly, and costovertebral dysplasia:
Inheritance autosomal dominant inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2180 Definition This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly , and costovertebral dysplasia may also be present. Epidemiology The syndrome has been described in eight female patients. Genetic counseling The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia, also known as ferlini-ragno-calzolari syndrome, is related to hypertelorism and hydrocephalus. Affiliated tissues include skin and bone, and related phenotypes are hydrocephalus and mandibular prognathia

More information from OMIM: 600991

Related Diseases for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Diseases related to Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.4
2 hydrocephalus 10.4
3 communicating hydrocephalus 10.4
4 brachydactyly 10.1
5 hydrocephalus skeletal anomalies 10.1

Graphical network of the top 20 diseases related to Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia:



Diseases related to Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Symptoms & Phenotypes for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Human phenotypes related to Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
2 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
3 sprengel anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000912
4 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
5 malar flattening 58 31 occasional (7.5%) Frequent (79-30%) HP:0000272
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 low-set ears 58 31 occasional (7.5%) Frequent (79-30%) HP:0000369
8 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
9 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
12 depressed nasal bridge 58 31 occasional (7.5%) Frequent (79-30%) HP:0005280
13 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
14 wide nasal bridge 58 31 occasional (7.5%) Frequent (79-30%) HP:0000431
15 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
16 anteverted nares 58 31 occasional (7.5%) Frequent (79-30%) HP:0000463
17 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
18 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
19 high forehead 58 31 occasional (7.5%) Frequent (79-30%) HP:0000348
20 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
21 hemivertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002937
22 sandal gap 58 31 occasional (7.5%) Frequent (79-30%) HP:0001852
23 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
24 bulbous nose 58 31 occasional (7.5%) Frequent (79-30%) HP:0000414
25 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
26 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
27 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
28 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
29 delayed gross motor development 31 occasional (7.5%) HP:0002194
30 epicanthus 31 occasional (7.5%) HP:0000286
31 arachnoid cyst 31 occasional (7.5%) HP:0100702
32 hypoplasia of dental enamel 31 occasional (7.5%) HP:0006297
33 global developmental delay 31 HP:0001263
34 abnormal form of the vertebral bodies 58 Frequent (79-30%)
35 kyphoscoliosis 31 HP:0002751
36 psychosis 31 HP:0000709
37 abnormality of the cerebral white matter 31 HP:0002500

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
epicanthus (in one family)

Skeletal Spine:
kyphoscoliosis
costovertebral dysplasia
malformed thoracic vertebrae

Head And Neck Mouth:
high-arched palate

Chest Ribs Sternum Clavicles And Scapulae:
sprengel deformity
malformed ribs

Head And Neck Ears:
low-set ears (in one family)

Head And Neck Teeth:
enamel hypoplasia (in one family)

Skeletal Feet:
sandal gap (in one family)

Neurologic Central Nervous System:
hydrocephalus
mental retardation (rare)
convulsions, febrile (in some patients)
white matter alterations (in one family)
arachnoid cysts (in one family)
more
Head And Neck Face:
prognathism
malar hypoplasia (in one family)
high forehead (in one family)

Skeletal Skull:
prominent mandible

Neurologic Behavioral Psychiatric Manifestations:
psychosis (rare)

Head And Neck Nose:
bulbous nose (in one family)
low nasal bridge (in one family)
broad nasal bridge (in one family)
anteverted nostrils (in one family)

Skeletal Hands:
brachydactyly (in one family)

Clinical features from OMIM:

600991

Drugs & Therapeutics for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Genetic Tests for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Anatomical Context for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

MalaCards organs/tissues related to Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia:

40
Skin, Bone

Publications for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Articles related to Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia:

# Title Authors PMID Year
1
Syndrome of hydrocephalus, costovertebral dysplasia and Sprengel anomaly with autosomal dominant inheritance. 61 56
6893487 1980
2
Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome. 56
8585573 1995

Variations for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Expression for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Search GEO for disease gene expression data for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia.

Pathways for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

GO Terms for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Sources for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

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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