MCID: HYD052
MIFTS: 17

Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Categories: Rare diseases, Fetal diseases, Neuronal diseases, Bone diseases, Mental 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 54
Ferlini-Ragno-Calzolari Syndrome 50 56
Waaler-Aarskog Syndrome 50 56
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome 56
Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 50
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 50
Waaler Aarskog Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
?autosomal dominant

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


Classifications:



Summaries for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2180disease definitionthis 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.epidemiologythe syndrome has been described in eight female patients.genetic counselingthe 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. last updated: 2/20/2006

MalaCards based summary : Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia, is also known as ferlini-ragno-calzolari syndrome, and has symptoms including brachydactyly, bulbous nose and high forehead.

Description from OMIM: 600991

Related Diseases for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate

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

Head And Neck- Face:
prognathism
malar hypoplasia (in one family)
high forehead (in one family)

Neurologic- Behavioral Psychiatric Manifestations:
psychosis (rare)

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
Skeletal- Spine:
kyphoscoliosis
costovertebral dysplasia
malformed thoracic vertebrae

Skeletal- Skull:
prominent mandible

Chest- Ribs Sternum Clavicles And Scapulae:
sprengel deformity
malformed ribs

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

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

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 bulbous nose 32 occasional (7.5%) HP:0000414
3 high forehead 32 occasional (7.5%) HP:0000348
4 hydrocephalus 32 HP:0000238
5 low-set ears 32 occasional (7.5%) HP:0000369
6 depressed nasal bridge 32 occasional (7.5%) HP:0005280
7 hypertelorism 32 HP:0000316
8 kyphoscoliosis 32 HP:0002751
9 anteverted nares 32 occasional (7.5%) HP:0000463
10 global developmental delay 32 HP:0001263
11 intellectual disability 32 occasional (7.5%) HP:0001249
12 wide nasal bridge 32 occasional (7.5%) HP:0000431
13 psychosis 32 HP:0000709
14 high palate 32 HP:0000218
15 epicanthus 32 occasional (7.5%) HP:0000286
16 sandal gap 32 occasional (7.5%) HP:0001852
17 malar flattening 32 occasional (7.5%) HP:0000272
18 sprengel anomaly 32 HP:0000912
19 delayed gross motor development 32 occasional (7.5%) HP:0002194
20 arachnoid cyst 32 occasional (7.5%) HP:0100702
21 mandibular prognathia 32 HP:0000303
22 hypoplasia of dental enamel 32 occasional (7.5%) HP:0006297
23 abnormality of the cerebral white matter 32 HP:0002500

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

Publications for Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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