Phenotypes associated with the disease Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (ORPHA:99646):
- D-2-hydroxyglutaric aciduria (HP:0012321): An increased concentration of 2-hydroxyglutaric acid in the urine. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99646)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99646)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99646)
- Multiple enchondromatosis (HP:0005701). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99646)
- Metaphyseal enchondromatosis (HP:0005868): An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99646)
- 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: Very frequent (HP:0040281). (ORPHA:99646)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Abnormal joint morphology (HP:0001367): An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Metaphyseal chondromatosis of tibia (HP:0030294). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Metaphyseal chondromatosis of femur (HP:0030295). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Metaphyseal chondromatosis of radius (HP:0030296). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Metaphyseal chondromatosis of ulna (HP:0030297). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99646)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Shield chest (HP:0000914): A broad chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Cavernous hemangioma (HP:0001048): The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Secundum atrial septal defect (HP:0001684): A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Abnormal globus pallidus morphology (HP:0002453): An abnormality of the globus pallidus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Multiple joint contractures (HP:0002828). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Enlargement of the ankles (HP:0003029). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Irregular iliac crest (HP:0003796): Irregularity of the iliac crest, which is the superior border of the wing of the ilium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Broad carpal bones (HP:0004242). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Lumbar scoliosis (HP:0004626). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Acute myelomonocytic leukemia (HP:0004820): An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Vascular tortuosity (HP:0004948): Abnormal twisting of arteries or veins. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Cerebellar dysplasia (HP:0007033): Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Abnormal pons morphology (HP:0007361): A structural abnormality of the pons. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Abnormal septum pellucidum morphology (HP:0007375): An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Cavernous hemangioma of the face (HP:0007486). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Intracranial cystic lesion (HP:0010576): A cystic lesion originating within the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Nasogastric tube feeding in infancy (HP:0011470): Feeding problem necessitating nasogastric tube feeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Subarterial ventricular septal defect (HP:0011681): A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Delayed myelination (HP:0012448): Delayed myelination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Cerebral white matter atrophy (HP:0012762): The presence of atrophy (wasting) of the cerebral white matter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Widened cerebral subarachnoid space (HP:0012766): An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Hyperpigmented papule (HP:0025473): A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Large knee (HP:0030866): Abnormally increased size of the knee joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- 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: Occasional (HP:0040283). (ORPHA:99646)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)
- Skin plaque (HP:0200035): A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99646)