Clinical Signs and Symptoms
ORPHA:50814 Craniolenticulosutural 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.
- Brittle hair HP:0002299
- Carious teeth HP:0000670
- Coarse hair HP:0002208
- Decreased skull ossification HP:0004331
- Delayed eruption of teeth HP:0000684
- Frontal bossing HP:0002007
- High iliac wings HP:0008808
- Hypertelorism HP:0000316
- Hypoplasia of teeth HP:0000685
- Hypoplasia of the maxilla HP:0000327
- Large fontanelles HP:0000239
- Long philtrum HP:0000343
- Microdontia HP:0000691
- Posterior Y-sutural cataract HP:0008031
- Posterior wedging of vertebral bodies HP:0008444
- Premature loss of teeth HP:0006480
- Prominent nasal bridge HP:0000426
- Prominent supraorbital ridges HP:0000336
- Scoliosis HP:0002650
- Short stature HP:0004322
- Skeletal dysplasia HP:0002652
- Smooth philtrum HP:0000319
- Sparse hair HP:0008070
- Thin vermilion border HP:0000233
- Wide mouth HP:0000154
- Wide nose HP:0000445
Very frequent
- Abnormality of skin pigmentation HP:0001000
- Capillary hemangioma HP:0005306
- Hyperpigmentation of the skin HP:0000953
- Narrow chest HP:0000774
- Pes planus HP:0001763
Frequent
- Delayed speech and language development HP:0000750
- High palate HP:0000218
- Joint hyperflexibility HP:0005692
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.