Clinical Signs and Symptoms
ORPHA:1517 Cantú 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 the metaphysis HP:0000944
- Cardiomegaly HP:0001640
- Coarse facial features HP:0000280
- Coxa valga HP:0002673
- Curly eyelashes HP:0007665
- Generalized hirsutism HP:0002230
- Long eyelashes HP:0000527
- Long philtrum HP:0000343
- Low anterior hairline HP:0000294
- Low posterior hairline HP:0002162
- Thick eyebrow HP:0000574
- Thick vermilion border HP:0012471
- Wide mouth HP:0000154
Very frequent
- Anteverted nares HP:0000463
- Broad hallux phalanx HP:0010059
- Broad ribs HP:0000885
- Cuboid-shaped vertebral bodies HP:0004634
- Deep plantar creases HP:0001869
- Delayed skeletal maturation HP:0002750
- Epicanthus HP:0000286
- Intellectual disability, mild HP:0001256
- Macrocephaly HP:0000256
- Narrow chest HP:0000774
- Osteoporosis HP:0000939
- Ovoid vertebral bodies HP:0003300
- Patent ductus arteriosus HP:0001643
- Platyspondyly HP:0000926
- Prominent supraorbital ridges HP:0000336
- Short distal phalanx of finger HP:0009882
- Short hallux HP:0010109
- Short neck HP:0000470
- Skeletal dysplasia HP:0002652
- Umbilical hernia HP:0001537
- Wide nasal bridge HP:0000431
Frequent
- Abnormal heart valve morphology HP:0001654
- Accelerated skeletal maturation HP:0005616
- Finger syndactyly HP:0006101
- Hypertrophic cardiomyopathy HP:0001639
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.