Phenotypes associated with the disease Smith-Magenis syndrome (OMIM:182290):
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 25/46. (PMID:17539903)
- Increased body weight (HP:0004324): Abnormally increased body weight. Evidence: PCS. Frequency: 10/30. (PMID:17539903)
- Everted upper lip vermilion (HP:0010803): Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 52/85. (PMID:20932317;PMID:17539903)
- Square face (HP:0000321): Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. Evidence: PCS. Frequency: 2/2. (PMID:20932317)
- 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. Frequency: 2/2. (PMID:20932317)
- 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: 57/77. (PMID:1746552;PMID:20932317;PMID:17539903)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 27/104. (PMID:1746552;PMID:17539903)
- Abnormal middle ear morphology (HP:0008609): An abnormality of the morphology or structure of the middle ear. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/2. (PMID:20932317)
- 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: PCS. Frequency: 7/12. (PMID:20932317;PMID:20301487)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: Frequent (HP:0040282). Onset: Infantile onset (HP:0003593). (PMID:20301487)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 2/2. (PMID:20932317)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: PCS. Frequency: 68/84. (PMID:20932317;PMID:17539903;PMID:20301487)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 16/26. (PMID:1746552)
- Abnormal tracheobronchial morphology (HP:0005607). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:182290)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: PCS. Frequency: 49/66. (PMID:17539903)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: PCS. (PMID:20301487)
- Broad palm (HP:0001169): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 12/20. (PMID:1746552;PMID:20932317)
- Abnormal forearm morphology (HP:0002973): An abnormality of the lower arm. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20301487)
- 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: 2/2. (PMID:20932317)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Abnormality of the larynx (HP:0001600): An abnormality of the larynx. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:182290)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:20932317)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 10/16. (PMID:1746552)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 7/17. (PMID:17539903)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- 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: 105/105. (PMID:17539903)
- 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:20932317)
- Self hugging (HP:0032521): Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. Evidence: PCS. (PMID:17539903)
- Spontaneous pneumothorax (HP:0002108): Pneumothorax occurring without traumatic injury to the chest or lung. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20301487)
- 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:17539903)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Frequency: 7/12. (PMID:20932317;PMID:20301487)
- Velopharyngeal insufficiency (HP:0000220): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20301487)
- 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: PCS. Frequency: 22/27. (PMID:1746552;PMID:20932317)
- Sleep-wake inversion (HP:0031849): A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night. Evidence: PCS. (PMID:11445803)
- Generalized non-motor (absence) seizure (HP:0002121): A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: PCS. Frequency: 46/52. (PMID:20932317;PMID:17539903)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Abnormal renal morphology (HP:0012210): Any structural anomaly of the kidney. Evidence: TAS. (OMIM:182290)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: PCS. Frequency: 8/16. (PMID:1746552)
- Abnormality of the immune system (HP:0002715): An abnormality of the immune system. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Motor stereotypy (HP:0000733): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: PCS. Frequency: 35/59. (PMID:17539903)
- Motor stereotypy (HP:0000733): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: PCS. Frequency: Frequent (HP:0040282). Onset: Infantile onset (HP:0003593). (PMID:20301487)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. (OMIM:182290)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Abnormality of the urinary system (HP:0000079): An abnormality of the urinary system. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20301487)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 7/12. (PMID:20932317;PMID:20301487)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 38/108. (PMID:1746552;PMID:20932317;PMID:17539903)
- Short palm (HP:0004279): Short palm. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 23/26. (PMID:1746552)
- Polyembolokoilamania (HP:0032508): Habitual insertion of foreign bodies into bodily orifices. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Onychotillomania (HP:0032509): Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:182290)
- 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: PCS. Frequency: 24/26. (PMID:1746552)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Head-banging (HP:0012168): Habitual striking of one's own head against a surface such as a mattress or wall of a crib. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Hyperacusis (HP:0010780): Over-sensitivity to certain frequency ranges of sound. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Truncal obesity (HP:0001956): Obesity located preferentially in the trunk of the body as opposed to the extremities. Evidence: PCS. Frequency: 2/2. (PMID:20932317)
- Abnormal nerve conduction velocity (HP:0040129). Evidence: PCS. Frequency: 0/11. (PMID:1746552)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 6/12. (PMID:20932317;PMID:20301487)
- Abnormality of the thyroid gland (HP:0000820): An abnormality of the thyroid gland. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20301487)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 15/26. Onset: Late onset (HP:0003584). (PMID:1746552)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 0/2. (PMID:20932317)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 1/2. (PMID:20932317)
- Self-mutilation (HP:0000742): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: PCS. Frequency: 77/86. (PMID:17539903)