Clinical Signs and Symptoms
ORPHA:808 Seckel 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.
- Cachexia HP:0004326
- Clinodactyly of the 5th finger HP:0004209
- Cognitive impairment HP:0100543
- Convex nasal ridge HP:0000444
- Craniosynostosis HP:0001363
- Delayed skeletal maturation HP:0002750
- Intellectual disability HP:0001249
- Intrauterine growth retardation HP:0001511
- Microcephaly HP:0000252
- Micrognathia HP:0000347
- Mild global developmental delay HP:0011342
- Narrow face HP:0000275
- Prematurely aged appearance HP:0007495
- Sandal gap HP:0001852
- Short stature HP:0004322
Very frequent
- Abnormality of dental enamel HP:0000682
- Abnormality of earlobe HP:0000363
- Absent earlobe HP:0000387
- Cone-shaped epiphysis HP:0010579
- Downslanted palpebral fissures HP:0000494
- Glaucoma HP:0000501
- Hip dysplasia HP:0001385
- Joint hyperflexibility HP:0005692
- Reduced number of teeth HP:0009804
- Sparse scalp hair HP:0002209
Frequent
- Scoliosis HP:0002650
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.