Phenotypes associated with the disease Acrootoocular syndrome (ORPHA:2980):
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- 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: Frequent (HP:0040282). (ORPHA:2980)
- Abnormality of facial musculature (HP:0000301): An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Abnormal earlobe morphology (HP:0000363): An abnormality of the lobule of pinna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Pseudopapilledema (HP:0000538): Apparent optic disc swelling in the absence of increased intracranial pressure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Anodontia (HP:0000674): The absence of all teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Grayish enamel (HP:0000683): A gray discoloration of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Small thenar eminence (HP:0001245): Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Abnormal finger flexion crease (HP:0006143): Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Decreased palmar creases (HP:0006184): Poorly defined or shallow palmar creases. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Hyperpigmented nevi (HP:0007481). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Small hypothenar eminence (HP:0010487): Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Prominent calcaneus (HP:0012428): Protruding heel bone, or calcaneus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Cutaneous syndactyly (HP:0012725): A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Wide nasal base (HP:0012810): Increased distance between the attachments of the alae nasi to the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
- Choking episodes (HP:0030842): Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2980)
Not associated with this disease:
- 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: TAS. (ORPHA:2980)