Phenotypes associated with the disease Beare-Stevenson cutis gyrata syndrome (OMIM:123790):
- Palmoplantar cutis laxa (HP:0007517): Loose, wrinkled skin of hands and feet. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: IEA. (OMIM:123790)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Breath-holding spell (HP:6000950): A benign paroxysmal nonepileptic disorder occurring in healthy children 6 to 48 months of age. The episodes start with a provocation such as emotional upset or minor injury, and might progress to breath holding, cyanosis, and syncope. Evidence: PCS. (PMID:12181710)
- 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. Frequency: 1/1. (PMID:18247426)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- 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. Frequency: 2/2. (PMID:18247426;PMID:19610084)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- 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. Frequency: 1/1. (PMID:18247426)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Exodeviation (HP:0020049): A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Prominent scrotal raphe (HP:0003246): Increased size of the ridge of tissue that extends along the midline of the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: IEA. (OMIM:123790)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- 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: PCS. Frequency: 1/1. (PMID:18247426)
- Preauricular skin furrow (HP:0004450): A groove of the skin immediately in front of the ear. Evidence: PCS. Frequency: 2/2. (PMID:18247426;PMID:19610084)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 2/2. (PMID:18247426;PMID:19610084)
- Underdeveloped supraorbital ridges (HP:0009891): Flatness of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- 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: PCS. Frequency: 1/1. (PMID:18247426)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: IEA. (OMIM:123790)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- 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:18247426)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:123790)
- Narrow palate (HP:0000189): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: IEA. (OMIM:123790)
- Cutis gyrata of scalp (HP:0010541): The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. Evidence: PCS. Frequency: 2/2. (PMID:18247426;PMID:19610084)
- Redundant umbilical skin (HP:0034361): Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Redundant neck skin (HP:0005989): Excess skin around the neck, often lying in horizontal folds. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Cloverleaf skull (HP:0002676): Trilobar skull configuration when viewed from the front or behind. Evidence: PCS. Frequency: 2/2. (PMID:18247426;PMID:19610084)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- 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: IEA. (OMIM:123790)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:123790)
- 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:18247426)
- Infra-orbital crease (HP:0100876): Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. Evidence: PCS. Frequency: 1/1. (PMID:19610084)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:18247426)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: PCS. Frequency: 1/1. (PMID:19610084)