Zechi-Ceide syndrome
Synonyms: Occipital atretic cephalocele-unusual facies-large feet syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Zechi-Ceide syndrome | Occipital atretic cephalocele-unusual facies-large feet syndrome |
| fr | Syndrome de Zechi-Ceide | Syndrome d'encéphalocèle atrétique occipitale-visage atypique-pieds larges |
| de | Zechi-Ceide-Syndrom | Okzipitale atretische Zephalozele - ungewöhnliche Fazies - große Füße |
| es | Síndrome de Zechi-Ceide | Encefalocele atrésico occipital-facies inusual-pies grandes |
| it | Sindrome di Zechi-Ceide | Cefalocele occipitale atresico - facies atipica - piedi grandi |
| nl | Syndroom van Zechi-Ceide | Occipitale atretische cefalocele - ongewoon gelaat - grote voeten-syndroom |
| pt | Síndrome de Zechi-Ceide | |
| pl | Zespół Zechiego i Ceide'a | Potyliczna przepuklina mózgowa - niezwykła twarz - duże stopy |
| cs | Zechi-Ceideové syndrom | Syndrom zahrnující okcipitální atretickou cefalokélu, anomálie tváře a velkou nohu |
| uk | Синдром Зехі-Цейде | Синдром потиличого атретичного цефалоцеле - незвичної фасції-великих стоп |
| zh | Zechi-Ceide综合征 | 枕部闭锁性脑膨出-面部异常-大脚畸形综合征 |
| tr | Zechi-Ceide sendromu | Oksipital atretik sefalosel-alışılmadık yüz-büyük ayak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612916 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0013036 | E | validated | |
| MeSH | C567865 | E | validated | |
| UMLS | C2752047 | E | validated | |
| GARD | 10582 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 17907157[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17907157[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2019-09-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0004470 | Atretic occipital cephalocele | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001263 | Global developmental delay | |
| HP:0001833 | Long foot | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0000677 | Oligodontia | |
| HP:0011220 | Prominent forehead | |
| HP:0001852 | Sandal gap | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010743 | Short metatarsal | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000322 | Short philtrum | |
| HP:0001792 | Small nail | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0000233 | Thin vermilion border | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0008551 | Microtia | |
| HP:0004451 | Postauricular skin tag | |
| HP:0100874 | Thick hair | |
| HP:0012704 | Widened subarachnoid space | |
Annotation source: 17907157[PMID]_22585531[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217017
- This record as JSON: /data/d/217017.json