Zechi-Ceide syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET
Occipital atretic cephalocele - unusual facies - large feet
Number of Symptoms 28
OrphanetNr: 217017
OMIM Id: 612916
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
2
 (HPO:0011800) Midface retrusion 221 / 7739
3
 (HPO:0000677) Oligodontia 41 / 7739
4
 (HPO:0000581) Blepharophimosis 197 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0004470) Atretic occipital cephalocele 2 / 7739
7
 (HPO:0000445) Wide nose 190 / 7739
8
 (HPO:0011220) Prominent forehead 137 / 7739
9
 (HPO:0000272) Malar flattening 277 / 7739
10
 (HPO:0000431) Wide nasal bridge 290 / 7739
11
 (HPO:0000204) Cleft upper lip 193 / 7739
12
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001833) Long foot 33 / 7739
15
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
16
 (HPO:0010743) Short metatarsal 56 / 7739
17
 (HPO:0001792) Small nail 55 / 7739
18
 (OMIM) Gap between the 1st and 2nd toes (sandal gap) 1 / 7739
19
 (OMIM) Small nares 3 / 7739
20
 (OMIM) Grooved nasal tip 3 / 7739
21
 (OMIM) Narrow ears 1 / 7739
22
 (OMIM) Large wide feet 1 / 7739
23
 (OMIM) Abnormal helices, antihelices and lobules 1 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Dandy-Walker variant 1 / 7739
26
 (OMIM) Grooved columella 2 / 7739
27
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
28
 (HPO:0012745) Short palpebral fissure 47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zechi-Ceide et al. (2007) reported 3 sibs, born to consanguineous parents, with occipital atretic cephalocele, hypoplastic cerebellar vermis, Dandy-Walker variant, mental retardation, prominent forehead, short narrow palpebral fissures, midface hypoplasia, broad nose and nasal root, grooved nasal tip ...