MCID: CRN076
MIFTS: 19

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 58 54 60 74
Cleft Lip/palate, Agenesis of Clavicles and Cervical Vertebrae, and Talipes Equinovarus 58 54

Characteristics:

Orphanet epidemiological data:

60
crane-heise syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

Classifications:



External Ids:

OMIM 58 218090
MESH via Orphanet 46 C536452
ICD10 via Orphanet 35 Q87.5
UMLS via Orphanet 75 C1857532
Orphanet 60 ORPHA1512
MedGen 43 C1857532
UMLS 74 C1857532

Summaries for Crane-Heise Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1512Disease definitionCrane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.EpidemiologyNine cases have been reported in the literature so far.Clinical descriptionDysmorphic 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.EtiologyIt is most likely that the condition is hereditary, transmitted as an autosomal recessivetrait.Antenatal diagnosisAntenatal diagnosis is possible by ultrasonographic monitoring for cerebral and vertebral malformations.PrognosisPrognosis 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 aminopterin syndrome sine aminopterin. 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

Description 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 aminopterin syndrome sine aminopterin 10.4

Symptoms & Phenotypes for Crane-Heise Syndrome

Human phenotypes related to Crane-Heise Syndrome:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
3 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
4 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
5 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
6 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
7 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
8 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
9 hypoplastic scapulae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000882
10 decreased skull ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004331
11 aplastic clavicle 33 hallmark (90%) HP:0006660
12 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
13 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
14 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
15 short distal phalanx of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009882
16 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
17 abnormally ossified vertebrae 33 frequent (33%) HP:0100569
18 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
19 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
20 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
21 abnormal vertebral ossification 60 Frequent (79-30%)
22 aplastic clavicles 60 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 Year
1
Crane-Heise syndrome: two further case reports. ( 21094705 )
2011
2
Crane-Heise syndrome: a second familial case report with elaboration of phenotype. ( 12673651 )
2003
3
Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS). ( 7894742 )
1994

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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