- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73)
- Patchy reduction of bone mineral density (HP:0010657): Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Abnormal calvaria morphology (HP:0002683): Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Impaired mastication (HP:0005216): An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Cortical irregularity (HP:0005731): An abnormal irregularity of cortical bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Osteolysis involving bones of the lower limbs (HP:0009139). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Abnormality of the temporomandibular joint (HP:0010754): An anomaly of the temporomandibular joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Abnormality of the internal auditory canal (HP:0011384): An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Abnormal facial skeleton morphology (HP:0011821): An abnormality of one or more of the set of bones that make up the facial skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Abnormal bone ossification (HP:0011849): Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Abnormal occipital bone morphology (HP:0012294): Abnormality of the occipital bone of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Rhinorrhea (HP:0031417): Increased discharge of mucus from the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Osteolysis involving bones of the upper limbs (HP:0045039). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Lymphangioma (HP:0100764): Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Mandibular pain (HP:0200025): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73)
- Mastoiditis (HP:0000265): Infection of the mastoid air cells, arising as a complication of otitis media or occurring in the context of unusual susceptibility to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Abnormal finger morphology (HP:0001167): An anomaly of a finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Hemangiomatosis (HP:0007461). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Abnormality of the thoracic cavity (HP:0045027). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Abnormal ethmoid bone morphology (HP:0430005): An abnormality of the ethmoid bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:73)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:73)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:73)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:73)
These phenotypes are associated with the disease Gorham-Stout disease (ORPHA:73).