MCID: CRN076
MIFTS: 19

Crane-Heise Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Crane-Heise Syndrome

MalaCards integrated aliases for Crane-Heise Syndrome:

Name: Crane-Heise Syndrome 57 53 59 73
Cleft Lip/palate, Agenesis of Clavicles and Cervical Vertebrae, and Talipes Equinovarus 57 53

Characteristics:

Orphanet epidemiological data:

59
crane-heise syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

Classifications:



External Ids:

OMIM 57 218090
Orphanet 59 ORPHA1512
MESH via Orphanet 45 C536452
UMLS via Orphanet 74 C1857532
ICD10 via Orphanet 34 Q87.5
MedGen 42 C1857532
UMLS 73 C1857532

Summaries for Crane-Heise Syndrome

NIH Rare Diseases : 53 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 cryptorchidism and cleft palate

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 10.2

Symptoms & Phenotypes for Crane-Heise Syndrome

Clinical features from OMIM:

218090

Human phenotypes related to Crane-Heise Syndrome:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
3 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
6 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 hypoplastic scapulae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000882
8 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
9 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
10 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
11 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
12 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
13 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
14 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
15 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
16 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
17 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
18 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
19 abnormal vertebral ossification 59 32 frequent (33%) Frequent (79-30%) HP:0100569
20 aplastic clavicles 59 Very frequent (99-80%)
21 aplastic clavicle 32 hallmark (90%) HP:0006660

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 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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