Phenotypes associated with the disease Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865):
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- 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: Frequent (HP:0040282). (ORPHA:1865)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- 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:1865)
- Anisospondyly (HP:0002879): Abnormally increased variability of the size of the vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Abnormality of limbs (HP:0040064). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1865)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- 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:1865)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- 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: Occasional (HP:0040283). (ORPHA:1865)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Pterygium (HP:0001059): Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Flexion contracture (HP:0001371): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Hypoplastic pubic bone (HP:0003173): Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Hypoplastic ischia (HP:0003175): Underdevelopment of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Broad long bones (HP:0005622): Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Increased placental thickness (HP:0032548): Abnormally elevated placental thickness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1865)