Phenotypes associated with the disease Atelosteogenesis type II (ORPHA:56304):
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:56304)
- 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: Frequent (HP:0040282). (ORPHA:56304)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- 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:56304)
- 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:56304)
- Ulnar deviation of the hand or of fingers of the hand (HP:0001193). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Hitchhiker thumb (HP:0001234): With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Laryngeal stenosis (HP:0001602): Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- 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:56304)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Tracheobronchomalacia (HP:0002786): Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Thoracolumbar kyphoscoliosis (HP:0003423). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Rhizomelic arm shortening (HP:0004991): Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Broad phalanx (HP:0006009): Increased side-to-side width of one or more phalanges of the fingers or toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Dumbbell-shaped femur (HP:0006375): The femur is shortened and displays flaring (widening) of the metaphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Equinovarus deformity (HP:0008110). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Laryngeal cartilage malformation (HP:0008752): A malformation of the laryngeal cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Upper limb undergrowth (HP:0009824): Arm shortening because of underdevelopment of one or more bones of the upper extremity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- 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:56304)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Increased femoral anteversion (HP:0012427): An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Tibial torsion (HP:0100694): Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56304)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- 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:56304)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- 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:56304)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Cervical kyphosis (HP:0002947): Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Facial midline hemangioma (HP:0004664): Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Hypoplastic cervical vertebrae (HP:0008434). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Wide nasal base (HP:0012810): Increased distance between the attachments of the alae nasi to the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Bilateral cleft palate (HP:0100337): Nonmidline cleft palate on the left and right sides. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56304)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:56304)