Phenotypes associated with the disease short stature-pituitary and cerebellar defects-small sella turcica syndrome (OMIM:262700):
- 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: PCS. (PMID:11567216)
- Small sella turcica (HP:0010538): An abnormally small sella turcica. Evidence: PCS. Frequency: 4/4. (PMID:11567216)
- Pituitary dwarfism (HP:0000839): A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. Evidence: IEA. (OMIM:262700)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: IEA. (OMIM:262700)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: IEA. (OMIM:262700)
- Severe postnatal growth retardation (HP:0008850): Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. Evidence: IEA. (OMIM:262700)
- Impaired growth-hormone response to insulin stimulation test (HP:0031079): Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). Evidence: PCS. (PMID:17065149)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: IEA. (OMIM:262700)
- 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:11567216)
- Marked delay in bone age (HP:0003799). Evidence: IEA. (OMIM:262700)