Clinical Signs and Symptoms
ORPHA:502 Trichorhinophalangeal syndrome type 2
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.
- Bone pain HP:0002653
- Bulbous nose HP:0000414
- Cone-shaped epiphyses of the phalanges of the hand HP:0010230
- Deep philtrum HP:0002002
- Delayed skeletal maturation HP:0002750
- Exostoses HP:0100777
- Long philtrum HP:0000343
- Low-set, posteriorly rotated ears HP:0000368
- Multiple long-bone exostoses HP:0005039
- Protruding ear HP:0000411
- Short stature HP:0004322
- Sparse scalp hair HP:0002209
- Thin upper lip vermilion HP:0000219
Very frequent
- Aplasia/Hypoplasia of the mandible HP:0009118
- Intellectual disability HP:0001249
- Joint dislocation HP:0001373
- Joint hyperflexibility HP:0005692
- Redundant skin HP:0001582
- Thick eyebrow HP:0000574
Frequent
- Abnormal palate morphology HP:0000174
- Abnormality of cardiovascular system morphology HP:0030680
- Abnormality of the dentition HP:0000164
- Avascular necrosis of the capital femoral epiphysis HP:0005743
- Bilateral single transverse palmar creases HP:0007598
- Brachydactyly HP:0001156
- Conductive hearing impairment HP:0000405
- Genu valgum HP:0002857
- Growth delay HP:0001510
- Hip dysplasia HP:0001385
- Hypotonia HP:0001252
- Increased number of teeth HP:0011069
- Microcephaly HP:0000252
- Recurrent urinary tract infections HP:0000010
- Talipes HP:0001883
- Thick nasal alae HP:0009928
- Ventriculomegaly HP:0002119
- Vesicoureteral reflux HP:0000076
- Wide nasal bridge HP:0000431
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.