Phenotypes associated with the disease microcephalic osteodysplastic primordial dwarfism type II (OMIM:210720):
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: IEA. (OMIM:210720)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: IEA. (OMIM:210720)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: IEA. (OMIM:210720)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: TAS. (OMIM:210720)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: IEA. (OMIM:210720)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. (OMIM:210720)
- Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines (HP:0007402). Evidence: TAS. (OMIM:210720)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:210720)
- 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. (OMIM:210720)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. (OMIM:210720)
- Long clavicle (HP:0000890): Increased length of the clavicles. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- 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: IEA. (OMIM:210720)
- 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: IEA. (OMIM:210720)
- 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). (OMIM:210720)
- Distal symphalangism (HP:0100263). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Proximal femoral epiphysiolysis (HP:0006461): Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. Evidence: IEA. (OMIM:210720)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: TAS. (OMIM:210720)
- Autosomal recessive inheritance (HP:0000007): 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). Evidence: TAS. (OMIM:210720)
- 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: IEA. (OMIM:210720)
- Straight clavicle (HP:0006587): An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: IEA. (OMIM:210720)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: IEA. (OMIM:210720)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: IEA. (OMIM:210720)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. (OMIM:210720)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: IEA. (OMIM:210720)
- Sloping forehead (HP:0000340): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: IEA. (OMIM:210720)
- 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: IEA. (OMIM:210720)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: IEA. (OMIM:210720)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: TAS. (OMIM:210720)
- 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. (OMIM:210720)
- Moyamoya phenomenon (HP:0011834): A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. Evidence: TAS. (OMIM:210720)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: IEA. (OMIM:210720)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: IEA. (OMIM:210720)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: IEA. (OMIM:210720)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: IEA. (OMIM:210720)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Abnormally high-pitched voice (HP:0001620): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: IEA. (OMIM:210720)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: PCS. (PMID:15372530)
- Large sella turcica (HP:0002690): An abnormal enlargement of the sella turcica. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Metacarpal pseudoepiphysis (HP:0009193): A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. Evidence: IEA. (OMIM:210720)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. (OMIM:210720)
- Ivory epiphyses (HP:0010583): Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: IEA. (OMIM:210720)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: IEA. (OMIM:210720)
- Truncal obesity (HP:0001956): Obesity located preferentially in the trunk of the body as opposed to the extremities. Evidence: IEA. (OMIM:210720)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:210720)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: TAS. (OMIM:210720)
- Thin clavicle (HP:0006645): Abnormally reduced diameter (cross section) of the clavicles. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210720)