Clinical Signs and Symptoms
ORPHA:1394 Cerebrofaciothoracic dysplasia
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.
- Bifid ribs HP:0000892
- Brachycephaly HP:0000248
- Broad philtrum HP:0000289
- Hemivertebrae HP:0002937
- Hypertelorism HP:0000316
- Hypoplasia of the corpus callosum HP:0002079
- Intellectual disability HP:0001249
- Low-set, posteriorly rotated ears HP:0000368
- Midface retrusion HP:0011800
- Narrow chest HP:0000774
- Rib fusion HP:0000902
- Short neck HP:0000470
- Thick eyebrow HP:0000574
- Wide mouth HP:0000154
- Wide nose HP:0000445
Very frequent
- Abnormal hair pattern HP:0010720
- Cerebellar vermis hypoplasia HP:0001320
- Cerebral cortical atrophy HP:0002120
- Coarse hair HP:0002208
- Downslanted palpebral fissures HP:0000494
- Epicanthus HP:0000286
- Hernia HP:0100790
- Low posterior hairline HP:0002162
- Macrocephaly HP:0000256
- Polyhydramnios HP:0001561
- Scoliosis HP:0002650
- Short nose HP:0003196
- Short stature HP:0004322
- Sprengel anomaly HP:0000912
- Strabismus HP:0000486
- Synophrys HP:0000664
- Ventriculomegaly HP:0002119
- Vertebral segmentation defect HP:0003422
Frequent
- Cleft palate HP:0000175
- Cleft upper lip HP:0000204
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.