Phenotypes associated with the disease Ehlers-Danlos syndrome, spondylodysplastic type, 2 (OMIM:615349):
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: TAS. (OMIM:615349)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 4/10. (PMID:29931299)
- 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: PCS. Frequency: 10/10. (PMID:29931299)
- Large joint hypermobility (HP:0430047): The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles. Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- Hypotonia (HP:0001252): 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. Evidence: PCS. Frequency: 9/14. (PMID:29931299;PMID:23664117)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 10/10. (PMID:29931299)
- 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: PCS. Frequency: 1/4. (PMID:23664117)
- Cervical spine instability (HP:0010646): An abnormal lack of stability of the cervical spine. Evidence: PCS. Frequency: 3/10. (PMID:29931299)
- Long upper lip (HP:0011341): Increased width of the upper lip. Evidence: PCS. Frequency: 3/4. (PMID:23664117)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 3/10. (PMID:29931299)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: PCS. Frequency: 8/10. (PMID:29931299)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: PCS. Frequency: 2/14. (OMIM:615349;PMID:23664117)
- Epiphyseal dysplasia (HP:0002656). Evidence: IEA. (OMIM:615349)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 14/14. (PMID:29931299;PMID:23664117)
- 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: PCS. Frequency: 3/14. (OMIM:615349;PMID:23664117)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 4/10. (PMID:29931299)
- Spatulate thumbs (HP:0001222): Spoon-shaped, broad thumbs. Evidence: PCS. Frequency: 3/4. (PMID:23664117)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 10/10. (PMID:29931299)
- 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: PCS. Frequency: 5/10. (PMID:29931299)
- Joint contracture (HP:0034392): A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. Evidence: PCS. Frequency: 10/10. (PMID:29931299)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 3/4. (PMID:23664117)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- 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: Occasional (HP:0040283). (OMIM:615349)
- 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: PCS. (PMID:29931299)
- Hyperplasia of the femoral trochanters (HP:0002822). Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 14/14. (PMID:29931299;PMID:23664117)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: PCS. Frequency: 3/4. (PMID:23664117)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 5/10. (PMID:29931299)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 5/10. (PMID:29931299)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: PCS. Frequency: 14/14. (PMID:29931299;PMID:23664117)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. (OMIM:615349)
- Finger joint hypermobility (HP:0006094). Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 8/10. (PMID:29931299)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 9/10. (PMID:29931299)
- Soft, doughy skin (HP:0001027): A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 10/14. (PMID:29931299;PMID:23664117)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 8/14. (PMID:29931299;PMID:23664117)
- Limited elbow movement (HP:0002996). Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- 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: PCS. Frequency: 2/4. (PMID:23664117)
- Advanced ossification of carpal bones (HP:0004233): Ossification of carpal bones at an abnormally early age. Evidence: PCS. Frequency: 1/4. (PMID:23664117)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 3/4. (PMID:23664117)
- Dysplasia of the femoral head (HP:0010575): The presence of developmental dysplasia of the femoral head. Evidence: PCS. Frequency: 11/14. (PMID:29931299;PMID:23664117)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Frequency: 2/10. (PMID:29931299)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: PCS. Frequency: 10/10. (PMID:29931299)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 2/4. (PMID:23664117)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 3/4. (PMID:23664117)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: PCS. Frequency: 10/10. (PMID:29931299)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. (PMID:29931299)
- Hypoplastic iliac body (HP:0008824): Underdevelopment of the body of ilium. Evidence: PCS. Frequency: 4/4. (PMID:23664117)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 0/4. (PMID:23664117)