Phenotypes associated with the disease craniodiaphyseal dysplasia, autosomal dominant (OMIM:122860):
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:21221996)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (OMIM:122860)
- 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. (OMIM:122860)
- Cortical sclerosis (HP:0005652): Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Diaphyseal sclerosis (HP:0003034): An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. (OMIM:122860)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 11/11. (PMID:21221996;OMIM:122860)
- Concave nasal ridge (HP:0011120): Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:122860)
- Facial diplegia (HP:0001349): Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). Evidence: TAS. (OMIM:122860)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. (OMIM:122860)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- 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. (OMIM:122860)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. (OMIM:122860)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Papilledema (HP:0001085): Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Craniofacial osteosclerosis (HP:0005464): Abnormally increased density of craniofacial bone tissue. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Craniofacial hyperostosis (HP:0004493): Excessive growth of the craniofacial bones. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Death in adolescence (HP:0011421): Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:21221996)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. (OMIM:122860)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. (OMIM:122860)
- Thickened ribs (HP:0000900): Increased thickness (diameter) of ribs. Evidence: TAS. (OMIM:122860)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:21221996)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 1/1. (PMID:21221996)