MCID: ZCH002
MIFTS: 22

Zechi-Ceide Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Zechi-Ceide Syndrome

MalaCards integrated aliases for Zechi-Ceide Syndrome:

Name: Zechi-Ceide Syndrome 56 74 58 71
Occipital Atretic Cephalocele-Unusual Facies-Large Feet Syndrome 58
Occipital Atretic Cephalocele, Unusual Facies, and Large Feet 56
Occipital Atretic Cephalocele, Unusual Facies and Large Feet 52
Zechi Ceide Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
zechi-ceide syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
zechi-ceide syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Zechi-Ceide 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: 217017 Definition Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability , developmental delay and hypoplastic finger and toenails have also been reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Zechi-Ceide Syndrome, also known as occipital atretic cephalocele-unusual facies-large feet syndrome, is related to autosomal recessive disease and encephalocele. Affiliated tissues include heart and skin, and related phenotypes are global developmental delay and abnormality of the helix

Wikipedia : 74 Zeichi-Ceide syndrome is a rare disease discovered in 2007. It is named after its discoverer, R.M.... more...

More information from OMIM: 612916

Related Diseases for Zechi-Ceide Syndrome

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

# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 10.5
2 encephalocele 10.5

Symptoms & Phenotypes for Zechi-Ceide Syndrome

Human phenotypes related to Zechi-Ceide Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
3 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
4 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
5 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
6 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
7 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
8 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
9 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
10 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
11 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
12 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
13 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
14 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
15 stenosis of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000402
16 abnormality of earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000363
17 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
18 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
19 small nail 58 31 frequent (33%) Frequent (79-30%) HP:0001792
20 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
21 short metatarsal 58 31 frequent (33%) Frequent (79-30%) HP:0010743
22 narrow palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0045025
23 long foot 58 31 frequent (33%) Frequent (79-30%) HP:0001833
24 abnormality of the posterior cranial fossa 58 31 frequent (33%) Frequent (79-30%) HP:0000932
25 cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0410030
26 atretic occipital cephalocele 58 31 frequent (33%) Frequent (79-30%) HP:0004470
27 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
28 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
29 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
30 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
31 thick hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0100874
32 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
33 postauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0004451
34 abnormal facial shape 31 HP:0001999
35 cleft upper lip 31 HP:0000204
36 malar flattening 31 HP:0000272
37 blepharophimosis 31 HP:0000581
38 underdeveloped nasal alae 31 HP:0000430
39 abnormal heart morphology 58 Occasional (29-5%)
40 cephalocele 31 HP:0011815

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
prominent forehead

Head And Neck Teeth:
oligodontia

Head And Neck Face:
midface hypoplasia

Head And Neck Nose:
broad nose
hypoplastic alae nasi
broad nasal root
small nares
grooved nasal tip

Head And Neck Eyes:
short palpebral fissures
narrow palpebral fissures

Head And Neck Mouth:
cleft palate
cleft lip
grooved columella

Skin Nails Hair Nails:
hypoplastic nails

Skeletal Feet:
short metatarsals
short distal phalanges
large wide feet
gap between the 1st and 2nd toes (sandal gap)

Neurologic Central Nervous System:
mental retardation
hypoplastic cerebellar vermis
occipital atretic cephalocele
dandy-walker variant

Head And Neck Ears:
narrow auditory canals
narrow ears
abnormal helices, antihelices and lobules

Clinical features from OMIM:

612916

Drugs & Therapeutics for Zechi-Ceide Syndrome

Search Clinical Trials , NIH Clinical Center for Zechi-Ceide Syndrome

Genetic Tests for Zechi-Ceide Syndrome

Anatomical Context for Zechi-Ceide Syndrome

MalaCards organs/tissues related to Zechi-Ceide Syndrome:

40
Heart, Skin

Publications for Zechi-Ceide Syndrome

Articles related to Zechi-Ceide Syndrome:

# Title Authors PMID Year
1
Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. 56
17907157 2007
2
Confirmation of the Zechi-Ceide syndrome. 61
22585531 2012

Variations for Zechi-Ceide Syndrome

Expression for Zechi-Ceide Syndrome

Search GEO for disease gene expression data for Zechi-Ceide Syndrome.

Pathways for Zechi-Ceide Syndrome

GO Terms for Zechi-Ceide Syndrome

Sources for Zechi-Ceide 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
Content
Loading form....