MCID: HYD052
MIFTS: 21

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 57
Ferlini-Ragno-Calzolari Syndrome 53 59
Waaler-Aarskog Syndrome 53 59
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome 59
Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 53
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 53
Waaler Aarskog Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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 : 53 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.

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

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:

57
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

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

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
3 sprengel anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000912
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
6 malar flattening 59 32 occasional (7.5%) Frequent (79-30%) HP:0000272
7 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
8 high forehead 59 32 occasional (7.5%) Frequent (79-30%) HP:0000348
9 low-set ears 59 32 occasional (7.5%) Frequent (79-30%) HP:0000369
10 bulbous nose 59 32 occasional (7.5%) Frequent (79-30%) HP:0000414
11 wide nasal bridge 59 32 occasional (7.5%) Frequent (79-30%) HP:0000431
12 prominent nose 59 32 frequent (33%) Frequent (79-30%) HP:0000448
13 anteverted nares 59 32 occasional (7.5%) Frequent (79-30%) HP:0000463
14 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
15 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
16 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
17 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
18 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
19 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
20 intellectual disability 59 32 occasional (7.5%) Frequent (79-30%) HP:0001249
21 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
22 sandal gap 59 32 occasional (7.5%) Frequent (79-30%) HP:0001852
23 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
24 hemivertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0002937
25 depressed nasal bridge 59 32 occasional (7.5%) Frequent (79-30%) HP:0005280
26 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
27 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
28 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
29 abnormal form of the vertebral bodies 59 Frequent (79-30%)
30 epicanthus 32 occasional (7.5%) HP:0000286
31 psychosis 32 HP:0000709
32 global developmental delay 32 HP:0001263
33 delayed gross motor development 32 occasional (7.5%) HP:0002194
34 abnormality of the cerebral white matter 32 HP:0002500
35 kyphoscoliosis 32 HP:0002751
36 hypoplasia of dental enamel 32 occasional (7.5%) HP:0006297
37 arachnoid cyst 32 occasional (7.5%) HP:0100702

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:

41
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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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