Clinical Signs and Symptoms
ORPHA:217017 Zechi-Ceide syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of earlobe HP:0000363
- Abnormality of the helix HP:0011039
- Abnormality of the posterior cranial fossa HP:0000932
- Atretic occipital cephalocele HP:0004470
- Cerebellar vermis hypoplasia HP:0001320
- Cleft lip HP:0410030
- Cleft palate HP:0000175
- Conductive hearing impairment HP:0000405
- Downturned corners of mouth HP:0002714
- Global developmental delay HP:0001263
- Long foot HP:0001833
- Mandibular prognathia HP:0000303
- Midface retrusion HP:0011800
- Narrow palpebral fissure HP:0045025
- Oligodontia HP:0000677
- Prominent forehead HP:0011220
- Sandal gap HP:0001852
- Short distal phalanx of finger HP:0009882
- Short metatarsal HP:0010743
- Short palpebral fissure HP:0012745
- Short philtrum HP:0000322
- Small nail HP:0001792
- Stenosis of the external auditory canal HP:0000402
- Thin vermilion border HP:0000233
- Wide nasal bridge HP:0000431
- Wide nose HP:0000445
Frequent
- Abnormal heart morphology HP:0001627
- Atrial septal defect HP:0001631
- Intellectual disability HP:0001249
- Low-set ears HP:0000369
- Microtia HP:0008551
- Postauricular skin tag HP:0004451
- Thick hair HP:0100874
- Widened subarachnoid space HP:0012704
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.