Phenotypes associated with the disease ANE syndrome (OMIM:612079):
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 4/5. (PMID:18439547)
- Motor deterioration (HP:0002333): Loss of previously present motor (i.e., movement) abilities. Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 3/5. (PMID:18439547)
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 3/5. (PMID:18439547)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: PCS. Frequency: 4/5. (PMID:18439547)
- 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. Frequency: 2/5. (PMID:18439547)
- Limb joint contracture (HP:0003121): A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. Evidence: PCS. Frequency: 4/5. (PMID:18439547)
- Upper motor neuron dysfunction (HP:0002493): A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Central adrenal insufficiency (HP:0011734): A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Flexural reticulate hyperpigmentation (HP:6000745): Hyperpigmented macules with a reticulate (net-like) pattern involving the neck, axillae, groins, and other flexures like the inframammary folds in females. Histopathology shows orthokeratosis or hyperkeratosis, thinning of the suprapapillary epithelium, elongation of the rete ridges, hyperpigmentation of the basal layer, and follicular cysts. A perivascular lymphohistiocytic infiltrate can be observed in the papillary dermis. Evidence: PCS. (PMID:18439547)
- Small pituitary gland (HP:0012506): An abnormally decreased size of the pituitary gland. Evidence: PCS. Frequency: 1/1. (PMID:18439547)
- Ulnar deviation of the hand (HP:0009487): Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). Evidence: PCS. (PMID:18439547)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 3/5. (PMID:18439547)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:18439547)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: PCS. (PMID:18439547)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 5/5. (PMID:18439547)
- Melanocytic nevus (HP:0000995): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: IEA. (OMIM:612079)