Phenotypes associated with the disease basal cell nevus syndrome 1 (OMIM:109400):
- Milia (HP:0001056): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Parietal bossing (HP:0000242): Parietal bossing is a marked prominence in the parietal region. Evidence: IEA. (OMIM:109400)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Broad face (HP:0000283): Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). Evidence: TAS. (OMIM:109400)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. (PMID:9096761)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Odontogenic keratocysts of the jaw (HP:0010603): A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. Evidence: PCS. Onset: Juvenile onset (HP:0003621). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Irregular ossification of hand bones (HP:0004280). Evidence: PCS. (PMID:9096761)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: PCS. (PMID:9096761)
- 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: PCS. (PMID:9096761)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: PCS. (PMID:9096761)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Bridged sella turcica (HP:0005449). Evidence: PCS. (PMID:9096761)
- 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: IEA. Frequency: Occasional (HP:0040283). (OMIM:109400)
- Orbital cyst (HP:0001144): Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:109400)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Bifid ribs (HP:0000892): A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. Evidence: PCS. (PMID:9096761)
- Cardiac rhabdomyoma (HP:0009729): A benign tumor of cardiac striated muscle. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: PCS. Onset: Young adult onset (HP:0011462). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Calcification of falx cerebri (HP:0005462): The presence of calcium deposition in the falx cerebri. Evidence: PCS. Onset: Young adult onset (HP:0011462). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Short distal phalanx of the thumb (HP:0009650): Hypoplastic (short) distal phalanx of the thumb. Evidence: IEA. (OMIM:109400)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: IEA. (OMIM:109400)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: PCS. (PMID:9096761)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Rhabdomyoma (HP:0009730): A benign tumor of striated muscle. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Abnormal sternum morphology (HP:0000766): An anomaly of the sternum, also known as the breastbone. Evidence: PCS. (PMID:9096761)
- Supernumerary ribs (HP:0005815): The presence of more than 12 rib pairs. Evidence: PCS. (OMIM:109400)
- 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. (OMIM:109400)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. (OMIM:109400)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Onset: Infantile onset (HP:0003593). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: IEA. (OMIM:109400)
- 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: PCS. Onset: Congenital onset (HP:0003577). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Short ribs (HP:0000773): Reduced rib length. Evidence: IEA. (OMIM:109400)
- Ovarian carcinoma (HP:0025318): A malignant neoplasm originating from the surface ovarian epithelium. Evidence: TAS. (OMIM:109400)
- Ovarian fibroma (HP:0010618): The presence of a fibroma of the ovary. Evidence: PCS. (PMID:9096761)
- Cardiac fibroma (HP:0010617): A fibroma of the heart. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. (OMIM:109400)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:109400)
- Hamartomatous stomach polyps (HP:0004795): Polyp-like protrusions which are histologically hamartomas located in the stomach. Evidence: IEA. (OMIM:109400)
- Palmar pits (HP:0010610). Evidence: PCS. (PMID:9096761)
- Plantar pits (HP:0010612): The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. Evidence: PCS. (PMID:9096761)
- Vertebral wedging (HP:0008422): An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 20/20. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns;OMIM:109400)
- Medulloblastoma (HP:0002885): A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. Evidence: PCS. Onset: Childhood onset (HP:0011463). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. (PMID:12116218)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:109400)