Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia. Kyphoscoliosis Type EDS is the result of a deficient lysyl hydroxylase (PLOD). Autosomal recessive inheritance. [ehlersdanlos.ca]

A marfanoid habitus is often striking. Thoracic scoliosis is common in the neonate. The kyphoscoliosis appears during infancy and becomes moderate to severe in childhood. [ncbi.nlm.nih.gov]

Hyperelastic skin in a person with cEDS Translucent skin in Vascular EDS (VEDS) Atrophic scar found in cEDS, clEDS, Dermatosparaxis, and some other types "Marfanoid habitus" (resembling Marfans Syndrome) long slender fingers of Kyphoscoliosis Type EDS [me-pedia.org]

Marfanoid habitus. Talipes equinovarus. Refractive errors (myopia, hypermetropia). Skin fragility (easy bruising, friable skin, poor wound healing), widened atrophic scarring. Scleral and ocular fragility/rupture. Microcornea. Facial dysmorphology. [patient.info]

Tissue fragility including atrophic scars and easy bruising may be seen. Spontaneous arterial rupture can easily occur. Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia. [ehlersdanlos.ca]

Easy bruising is common. Joint hypermobility is the primary clinical manifestation. [nature.com]

Signs and Symptoms of Vascular EDS The signs and symptoms of vascular EDS vary by patient; however, easy bruising, even after sustaining only minor trauma, is a common finding. 2,3 Patients with this condition may have soft skin that appears thin and [raredr.com]

bruising and hemorrhage and impaired wound healing in affected individuals. [dog.org]

They do some good but don’t keep the joints in place completely.” 9. “ Easy bruising. I leaned against furniture while rearranging my basement. Next day my legs looked like this. [themighty.com]

Adults with severe kyphoscoliosis are at risk for complications from restrictive lung disease, recurrent pneumonia, and cardiac failure. Diagnosis/testing. [ncbi.nlm.nih.gov]

Patients with severe kyphoscoliosis are at risk for complications such as respiratory compromise, recurrent pneumonia, and even cardiac failure. [healio.com]

Kyphoscoliosis Type Generalized joint laxity and severe muscle hypotonia at birth are seen in this type of EDS. Muscular hypotonia can be very pronounced and leads to delayed gross motor development. [ehlersdanlos.ca]

Major criteria are: Short stature (progressive in childhood); Muscle hypotonia (ranging from severe congenital, to mild later-onset); and Bowing of limbs. [ehlers-danlos.com]

Myopathic type is characterized by muscle hypotonia, muscle atrophy, joint contractures and hypermobility of distal joints. Periodontal type is characterized by periodontitis, lack of attached gingival and pretibial plaques. [xpertdox.com]

hypotonia and delayed motor development. [genecards.org]

Diagnosis requires congenital muscle hypotonia and congenital or early-onset kyphoscoliosis, plus either GJH or three minor criteria. Confirmatory testing is needed for a final diagnosis. Major criteria Congenital muscle hypotonia. [patient.info]

Keratoconus, blue sclerae, dislocated lens, retinal detachment or angoid streaks were not observed. Conclusions: Ocular manifestations of EDS were mainly dry eye syndrome, myopia, strabism and hyperextensible eye lids. [dog.org]

Like EDS patients and EDS-K patients in particular, they may also have blue sclerae, joint hypermobility, hyperelastic skin, and hearing loss. Laboratory testing can distinguish EDS-K from BCS. Cutis laxa. [forgottendiseases.org]

Terms: Cutis Elastica Synonyms Brittle cornea syndrome Congenital anomaly of sclera Congenital kyphoscoliosis Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Cutis laxa, x-linked Disorder of copper metabolism Distal arthrogryposis [icdlist.com]

A subset of patients may develop Brittle Cornea Syndrome characterized by thin cornea, progressive keratoglobus, and blue sclerae. [xpertdox.com]

sclerae, high myopia, and keratoconus. [me-pedia.org]

Bluish sclerae are a common feature. High myopia is common. Many individuals have microcornea, although its clinical significance is unclear. Glaucoma and retinal detachment also occur. [ncbi.nlm.nih.gov]

The spondylocheirodyplastic form of EDS is characterized by hyperextensible thin skin, easy bruising, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of [nature.com]