Clinical Signs and Symptoms
ORPHA:93384 Brachydactyly type C
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.
- Aplasia/Hypoplasia of the 1st metacarpal HP:0010026
- Pseudoepiphyses of the 2nd finger HP:0009495
- Short middle phalanx of finger HP:0005819
- Type C brachydactyly HP:0009373
- Ulnar deviation of finger HP:0009465
Very frequent
- Abnormal fingernail morphology HP:0001231
- Complete duplication of distal phalanx of the thumb HP:0009606
- Cone-shaped epiphysis HP:0010579
- Short metatarsal HP:0010743
- Stippling of the epiphysis of the distal phalanx of the thumb HP:0009684
Frequent
- Clinodactyly of the 5th finger HP:0004209
- Metatarsus valgus HP:0010508
- Short stature HP:0004322
- Symphalangism affecting the phalanges of the hand HP:0009773
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.