Phenotypes associated with the disease Moebius syndrome (ORPHA:570):
- Open mouth (HP:0000194): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- Mask-like facies (HP:0000298): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- Abnormality of the voice (HP:0001608). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:570)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:570)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:570)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:570)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:570)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:570)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:570)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:570)
- Aplasia of the pectoralis major muscle (HP:0009751): Absence of the pectoralis major muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Absent hand (HP:0004050): The total absence of the hand, with no bony elements distal to the radius or ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Abnormality of the sense of smell (HP:0004408): An anomaly in the ability to perceive and distinguish scents (odors). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914): Aplasia or Hypoplasia affecting the metacarpal bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Aplasia/Hypoplasia of the thumb (HP:0009601): Hypoplastic/small or absent thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Aplasia/Hypoplasia of the tongue (HP:0010295): Absence or underdevelopment of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)
- Breast aplasia (HP:0100783): Failure to develop and congenital absence of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:570)