Clinical Signs and Symptoms
ORPHA:198 Occipital horn 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.
- Abnormal skull morphology HP:0000929
- Abnormality of the face HP:0000271
- Cerebral calcification HP:0002514
- Delayed cranial suture closure HP:0000270
- Exostoses HP:0100777
- Global developmental delay HP:0001263
- Hyperextensible skin HP:0000974
- Intellectual disability HP:0001249
- Joint hyperflexibility HP:0005692
- Large fontanelles HP:0000239
- Specific learning disability HP:0001328
Very frequent
- Abnormality of esophagus physiology HP:0025270
- Abnormality of the sense of smell HP:0004408
- Abnormality of the wrist HP:0003019
- Atypical scarring of skin HP:0000987
- Brachydactyly HP:0001156
- Bruising susceptibility HP:0000978
- Cholestasis HP:0001396
- Dilatation HP:0002617
- Dysphagia HP:0002015
- Esophagitis HP:0100633
- Gastroesophageal reflux HP:0002020
- Gastroparesis HP:0002578
- Hepatitis HP:0012115
- Hiatus hernia HP:0002036
- High, narrow palate HP:0002705
- Hypothermia HP:0002045
- Jaundice HP:0000952
- Keloids HP:0010562
- Long philtrum HP:0000343
- Muscular hypotonia HP:0001252
- Osteomalacia HP:0002749
- Osteopenia HP:0000938
- Osteoporosis HP:0000939
- Pectus carinatum HP:0000768
- Pectus excavatum HP:0000767
- Platyspondyly HP:0000926
- Poor suck HP:0002033
- Rickets HP:0002748
- Scarring HP:0100699
- Short palm HP:0004279
- Synostosis of joints HP:0100240
- Venous insufficiency HP:0005293
Frequent
- Abnormality of fibula morphology HP:0002991
- Abnormality of the pubic bone HP:0003172
- Absent tibia HP:0009556
- Aplasia/hypoplasia of the humerus HP:0006507
- Aplastic clavicles HP:0006660
- Avascular necrosis of the capital femoral epiphysis HP:0005743
- Bladder diverticulum HP:0000015
- Coarse hair HP:0002208
- Coxa valga HP:0002673
- Coxa vara HP:0002812
- Down-sloping shoulders HP:0200021
- Downslanted palpebral fissures HP:0000494
- Femoral hernia HP:0100541
- Genu valgum HP:0002857
- High forehead HP:0000348
- Hip dislocation HP:0002827
- Hip dysplasia HP:0001385
- Humerus varus HP:0003874
- Inguinal hernia HP:0000023
- Kyphosis HP:0002808
- Large iliac wings HP:0008818
- Narrow chest HP:0000774
- Osteolysis HP:0002797
- Pes planus HP:0001763
- Recurrent urinary tract infections HP:0000010
- Scoliosis HP:0002650
- Thick hair HP:0100874
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.