Gene: AP4B1
Cytoband position: 1p13.2
OMIM: 607245
RVIS score: -0.13
RVIS percentage: 44.30
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of facial musculature | HP:0000301 | None | An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| Short philtrum | HP:0000322 | HP:0200090 | Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. |
| Narrow forehead | HP:0000341 | HP:0004677 | Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Cerebral cortical atrophy | HP:0002120 | HP:0006835 | Atrophy of the cortex of the cerebrum. |
| Neurological speech impairment | HP:0002167 | None | None |
| Abnormality of lower limb joint | HP:0100491 | HP:0100239 | None |
| Abnormality of forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Drooling | HP:0002307 | None | Habitual flow of saliva out of the mouth. |
| Leukoencephalopathy | HP:0002352 | HP:0007073 | This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. |
| Difficulty walking | HP:0002355 | HP:0009030 | Reduced ability to walk (ambulate). |
| Abnormality of salivation | HP:0100755 | None | None |
| Language impairment | HP:0002463 | None | Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. |
| Spastic dysarthria | HP:0002464 | None | A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. |
| Poor speech | HP:0002465 | None | None |
| Upper motor neuron dysfunction | HP:0002493 | None | A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| Abnormal periventricular white matter morphology | HP:0002518 | None | A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. |
| Abnormal cerebral cortex morphology | HP:0002538 | None | Any structural abnormality of the cerebral cortex. |
| Inability to walk | HP:0002540 | None | Incapability to ambulate. |
| Abnormality of pelvic girdle bone morphology | HP:0002644 | None | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| Abnormality of mouth size | HP:0011337 | None | None |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Joint laxity | HP:0001388 | HP:0002771 | Lack of stability of a joint. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Bulbous nose | HP:0000414 | HP:0000443 | Increased volume and globular shape of the anteroinferior aspect of the nose. |
| Abnormal nasal bridge morphology | HP:0000422 | HP:0000423 | Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. |
| Wide nasal bridge | HP:0000431 | HP:0200139 | Increased breadth of the nasal bridge (and with it, the nasal root). |
| Abnormality of the nasal tip | HP:0000436 | None | An abnormality of the nasal tip. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| Visual impairment | HP:0000505 | HP:0007983 | 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. |
| Abnormal conjugate eye movement | HP:0000549 | None | Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. |
| Amblyopia | HP:0000646 | None | Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Behavioral abnormality | HP:0000708 | HP:0002456 | An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. |
| Stereotypy | HP:0000733 | HP:0008759 | A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. |
| Delayed speech and language development | HP:0000750 | HP:0007172 | A degree of language development that is significantly below the norm for a child of a specified age. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| Thin corpus callosum | HP:0033725 | None | An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). |
| Intellectual disability | HP:0001249 | HP:0007180 | Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. |
| Hypotonia | HP:0001252 | HP:0011398 | 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. |
| Spasticity | HP:0001257 | None | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Spastic paraplegia | HP:0001258 | HP:0007216 | Spasticity and weakness of the leg and hip muscles. |
| Dysarthria | HP:0001260 | HP:0002327 | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| Global developmental delay | HP:0001263 | HP:0007342 | 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. |
| Cerebellar atrophy | HP:0001272 | HP:0007203 | Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. |
| Abnormal corpus callosum morphology | HP:0001273 | HP:0007323 | Abnormality of the corpus callosum. |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Gait disturbance | HP:0001288 | HP:0006953 | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| Abnormal cerebellum morphology | HP:0001317 | None | Any structural abnormality of the cerebellum. |
| Neonatal hypotonia | HP:0001319 | HP:0008976 | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| Dystonia | HP:0001332 | HP:0002328 | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| Hyperreflexia | HP:0001347 | HP:0007318 | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| Flexion contracture | HP:0001371 | HP:0005660 | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Abnormal hip joint morphology | HP:0001384 | None | An abnormality of the hip joint. |
| Growth delay | HP:0001510 | HP:0008926 | A deficiency or slowing down of growth pre- and postnatally. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Abnormal foot morphology | HP:0001760 | HP:0010611 | An abnormality of the skeleton of foot. |
| Talipes equinovarus | HP:0001762 | None | 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. |
| Talipes | HP:0001883 | None | A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. |
| Abnormal tendon morphology | HP:0100261 | None | An abnormality of the structure or form of the tendons, also often called sinews. |
| Abnormal facial shape | HP:0001999 | HP:0005124 | An abnormal morphology (form) of the face or its components. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0007319 | A structural abnormality of the central nervous system. |
| Cerebral atrophy | HP:0002059 | HP:0006890 | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Lower limb spasticity | HP:0002061 | None | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| Hypoplasia of the corpus callosum | HP:0002079 | HP:0007026 | Underdevelopment of the corpus callosum. |
| Abnormal cerebral ventricle morphology | HP:0002118 | None | Any structural abnormality of the cerebral ventricles. |
| Ventriculomegaly | HP:0002119 | HP:0007071 | An increase in size of the ventricular system of the brain. |
| Shyness | HP:0100962 | None | None |
| Generalized joint laxity | HP:0002761 | None | Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormality of the knee | HP:0002815 | None | An abnormality of the knee joint or surrounding structures. |
| Genu recurvatum | HP:0002816 | None | An abnormally increased extension of the knee joint, so that the knee can bend backwards. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Abnormality of the musculature | HP:0003011 | HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Abnormal acetabulum morphology | HP:0003170 | None | An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. |
| Abnormal hip bone morphology | HP:0003272 | None | An abnormality of the hip bone. |
| Babinski sign | HP:0003487 | HP:0001352 | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Congenital onset | HP:0003577 | HP:0003666 | A phenotypic abnormality that is present at birth. |
| Onset | HP:0003674 | HP:0011007 | The age group in which disease manifestations appear. |
| Slowly progressive | HP:0003677 | HP:0003681 | Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. |
| Pace of progression | HP:0003679 | None | None |
| Excessive salivation | HP:0003781 | None | Excessive production of saliva. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Functional motor deficit | HP:0004302 | None | None |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Increased body weight | HP:0004324 | HP:0045083 | Abnormally increased body weight. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Abnormality of the synovia | HP:0005262 | None | None |
| Positional foot deformity | HP:0005656 | None | A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. |
| Progressive spastic paraplegia | HP:0007020 | HP:0007255 | None |
| Abnormal pyramidal sign | HP:0007256 | HP:0007347 | Functional neurological abnormalities related to dysfunction of the pyramidal tract. |
| Abnormality of limbs | HP:0040064 | None | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Atrophy/Degeneration affecting the central nervous system | HP:0007367 | None | None |
| Atrophy/Degeneration affecting the cerebrum | HP:0007369 | None | The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. |
| Aplasia/Hypoplasia of the corpus callosum | HP:0007370 | HP:0007137 | Absence or underdevelopment of the corpus callosum. |
| Reduced visual acuity | HP:0007663 | HP:0008008 | None |
| Acetabular dysplasia | HP:0008807 | HP:0008799 | The presence of developmental dysplasia of the acetabular part of hip bone. |
| Overweight | HP:0025502 | None | Increased body weight with a body mass index of 25-29.9 kg per square meter. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Hyperextensibility of the knee | HP:0010500 | None | The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). |
| Paraplegia | HP:0010550 | None | Severe or complete weakness of both lower extremities with sparing of the upper extremities. |
| Paraplegia/paraparesis | HP:0010551 | None | Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. |
| Everted upper lip vermilion | HP:0010803 | None | 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. |
| Intellectual disability, severe | HP:0010864 | HP:0007196 | Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. |
| Abnormality of the external nose | HP:0010938 | None | An abnormality of the external nose. |
| Abnormality of the cerebral subcortex | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| Abnormality of hindbrain morphology | HP:0011282 | None | An abnormality of the hindbrain, also known as the rhombencephalon. |
| Abnormal metencephalon morphology | HP:0011283 | None | An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. |
| Abnormality of upper lip vermillion | HP:0011339 | None | An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Abnormality of higher mental function | HP:0011446 | None | Cognitive, psychiatric or memory anomaly. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Abnormality of facial soft tissue | HP:0011799 | None | None |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Abnormality of skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormality of musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormal social behavior | HP:0012433 | None | An abnormality of actions or reactions of a person taking place during interactions with others. |
| Abnormality of brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Brain atrophy | HP:0012444 | None | Partial or complete wasting (loss) of brain tissue that was once present. |
| Eclabion | HP:0012472 | None | A turning outward of the lip or lips, that is, eversion of the lips. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Neurodevelopmental delay | HP:0012758 | None | None |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Abnormal oral physiology | HP:0031815 | None | A functional anomaly of the mouth (which is also known as the oral cavity). |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormal reflex | HP:0031826 | None | Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). |
| Abnormal superficial reflex | HP:0031828 | None | An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Wide mouth | HP:0000154 | HP:0002052 | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Abnormality of upper lip | HP:0000177 | None | An abnormality of the upper lip. |
| High palate | HP:0000218 | HP:0009097 | 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). |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormality of the philtrum | HP:0000288 | HP:0011216 | An abnormality of the philtrum. |
| Abnormality of the forehead | HP:0000290 | None | An anomaly of the forehead. |
| Facial hypotonia | HP:0000297 | None | Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| Decreased head circumference | HP:0040195 | None | An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. |
| Weakness due to upper motor neuron dysfunction | HP:0010549 | None | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |
| Strabismus | HP:0000486 | HP:0000487 | 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. |
| Seizure | HP:0001250 | HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| Abnormality of body height | HP:0000002 | None | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001526 | 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Microcephaly | HP:0000252 | HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Coarse facial features | HP:0000280 | HP:0004640 | Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. |
| Pes planus | HP:0001763 | None | 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. |
| Waddling gait | HP:0002515 | None | Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. |
| Short stature | HP:0004322 | HP:0008913 | 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). |