MCID: CRN076
MIFTS: 20

Crane-Heise Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Crane-Heise Syndrome

MalaCards integrated aliases for Crane-Heise Syndrome:

Name: Crane-Heise Syndrome 56 52 58 71
Cleft Lip/palate, Agenesis of Clavicles and Cervical Vertebrae, and Talipes Equinovarus 56 52

Characteristics:

Orphanet epidemiological data:

58
crane-heise syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 218090
MESH via Orphanet 44 C536452
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 72 C1857532
Orphanet 58 ORPHA1512
MedGen 41 C1857532
UMLS 71 C1857532

Summaries for Crane-Heise Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1512 Definition Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Epidemiology Nine cases have been reported in the literature so far. Clinical description Dysmorphic features include micrognathia , cleft palate , hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. Etiology It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait . Antenatal diagnosis Antenatal diagnosis is possible by ultrasonographic monitoring for cerebral and vertebral malformations. Prognosis Prognosis is poor; the syndrome is almost always lethal soon after birth. Visit the Orphanet disease page for more resources.

MalaCards based summary : Crane-Heise Syndrome, also known as cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus, is related to cleft palate, isolated and hypertelorism. An important gene associated with Crane-Heise Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1). Related phenotypes are hypertelorism and depressed nasal bridge

More information from OMIM: 218090

Related Diseases for Crane-Heise Syndrome

Diseases related to Crane-Heise Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.4
2 hypertelorism 10.4
3 aminopterin syndrome sine aminopterin 10.4
4 cleft lip 10.4
5 cleft lip/palate 10.4

Graphical network of the top 20 diseases related to Crane-Heise Syndrome:



Diseases related to Crane-Heise Syndrome

Symptoms & Phenotypes for Crane-Heise Syndrome

Human phenotypes related to Crane-Heise Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
7 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
8 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
9 hypoplastic scapulae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000882
10 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
11 aplastic clavicle 31 hallmark (90%) HP:0006660
12 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
13 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
14 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
15 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
16 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
17 abnormally ossified vertebrae 31 frequent (33%) HP:0100569
18 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
19 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
20 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
21 abnormal vertebral ossification 58 Frequent (79-30%)
22 aplastic clavicles 58 Very frequent (99-80%)

Clinical features from OMIM:

218090

Drugs & Therapeutics for Crane-Heise Syndrome

Search Clinical Trials , NIH Clinical Center for Crane-Heise Syndrome

Genetic Tests for Crane-Heise Syndrome

Anatomical Context for Crane-Heise Syndrome

Publications for Crane-Heise Syndrome

Articles related to Crane-Heise Syndrome:

# Title Authors PMID Year
1
Crane-Heise syndrome: a second familial case report with elaboration of phenotype. 61 56
12673651 2003
2
Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS). 61 56
7894742 1994
3
New syndrome in three affected siblings. 56
7267231 1981
4
Crane-Heise syndrome: two further case reports. 61
21094705 2011

Variations for Crane-Heise Syndrome

Expression for Crane-Heise Syndrome

Search GEO for disease gene expression data for Crane-Heise Syndrome.

Pathways for Crane-Heise Syndrome

GO Terms for Crane-Heise Syndrome

Sources for Crane-Heise Syndrome

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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