Phenotypes associated with the disease Congenital infiltrating lipomatosis of the face (ORPHA:583097):
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:583097)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Advanced eruption of teeth (HP:0006288): Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Abnormal subcutaneous fat tissue distribution (HP:0007552). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Enlargement of parotid gland (HP:0011801): Increased size of the parotid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Prominence of the zygomatic bone (HP:0012370): Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Enlarged tonsils (HP:0030812): Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- Hyperplasia of the maxilla (HP:0430028): Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:583097)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Pachygyria (HP:0001302): Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Macrodontia (HP:0001572): Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Agenesis of permanent teeth (HP:0006349): A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Hemimegalencephaly (HP:0007206): Enlargement of all or parts of one cerebral hemisphere. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Sleep apnea (HP:0010535): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Abnormal social behavior (HP:0012433): An abnormality of actions or reactions of a person exhibited during social interactions with other individuals. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Temporomandibular joint ankylosis (HP:0012478): Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)
- Multiple mucosal neuromas (HP:0031023): Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:583097)