MCID: HYD052
MIFTS: 22

Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia

Categories: Rare diseases, Mental diseases, Bone diseases, Neuronal diseases, Fetal 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 53
Ferlini-Ragno-Calzolari Syndrome 49 55
Waaler-Aarskog Syndrome 49 55
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome 55
Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 49
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 49
Waaler Aarskog Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
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 : 49 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 macrocephaly, malar flattening and hypertelorism. Affiliated tissues include skin.

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:

53
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 RibsSternum 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

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

55 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
2 malar flattening 55 31 occasional (7.5%) Frequent (79-30%) HP:0000272
3 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
4 low-set ears 55 31 occasional (7.5%) Frequent (79-30%) HP:0000369
5 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
6 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
7 hydrocephalus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000238
8 intellectual disability 55 31 occasional (7.5%) Frequent (79-30%) HP:0001249
9 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
10 mandibular prognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000303
11 behavioral abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000708
12 depressed nasal bridge 55 31 occasional (7.5%) Frequent (79-30%) HP:0005280
13 wide nasal bridge 55 31 occasional (7.5%) Frequent (79-30%) HP:0000431
14 anteverted nares 55 31 occasional (7.5%) Frequent (79-30%) HP:0000463
15 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 wide intermamillary distance 55 31 occasional (7.5%) Occasional (29-5%) HP:0006610
17 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
18 sprengel anomaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000912
19 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
20 sandal gap 55 31 occasional (7.5%) Frequent (79-30%) HP:0001852
21 abnormality of dental enamel 55 31 frequent (33%) Frequent (79-30%) HP:0000682
22 bulbous nose 55 31 occasional (7.5%) Frequent (79-30%) HP:0000414
23 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
24 high forehead 55 31 occasional (7.5%) Frequent (79-30%) HP:0000348
25 cutaneous photosensitivity 55 31 frequent (33%) Frequent (79-30%) HP:0000992
26 hemivertebrae 55 31 frequent (33%) Frequent (79-30%) HP:0002937
27 abnormality of skin pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0001000
28 prominent nose 55 31 frequent (33%) Frequent (79-30%) HP:0000448
29 global developmental delay 31 HP:0001263
30 epicanthus 31 occasional (7.5%) HP:0000286
31 abnormal form of the vertebral bodies 55 Frequent (79-30%)
32 psychosis 31 HP:0000709
33 kyphoscoliosis 31 HP:0002751
34 delayed gross motor development 31 occasional (7.5%) HP:0002194
35 arachnoid cyst 31 occasional (7.5%) HP:0100702
36 hypoplasia of dental enamel 31 occasional (7.5%) HP:0006297
37 abnormality of the cerebral white matter 31 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

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

38
Skin

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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