spondyloepiphyseal dysplasia

Congenital spondyloepiphyseal dysplasia is inherited as an autosomal dominant trait.

The condition of late actor Michael Dunn has been attributed to spondyloepiphyseal dysplasia, type unspecified.

Actor Warwick Davis's dwarfism has been attributed to spondyloepiphyseal dysplasia congenita.

People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs.

The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder.

Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related disorder on the spectrum of abnormal bone growth.

Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT).

Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis.

Francisco and Evelyn were born with a genetic disease that affects four in every one million people, spondyloepiphyseal dysplasia congenita, or SEDC.

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene.

Bill Klein and Jennifer Arnold from the TV series The Little Couple both have spondyloepiphyseal dysplasia as well.

COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)

Unlike most dwarfs (70%) who have a condition called achondroplasia, Davis' dwarfism is caused by an extremely rare genetic condition called spondyloepiphyseal dysplasia congenita (SED).

Other causes of dwarfism are spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Turner syndrome, osteogenesis imperfecta (OI) and hypothyroidism.

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing.

Pseudoachondroplasia SED Congenital SEDC None Congenital spondyloepiphyseal dysplasia is a rare genetic disorder characterized by growth deficiency before birth (prenatally), spinal malformations, and/or abnormalities affecting the eyes.

Michael Dunn suffered from medical dwarfism, a result of spondyloepiphyseal dysplasia (SED, subtype unknown), a genetic defect of cartilage production caused by a mutation in the COL2A1 (type II collagen) gene.

Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.

SED tarda X-linked spondyloepiphyseal dysplasia None Spondyloepiphyseal dysplasia tarda (SEDT; SEDL) is a rare, hereditary skeletal disorder that only affects males.

Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.