The facial appearance and some of the features resemble the SHORT syndrome, the name being an acronym for Short stature, Hyperextensible joints, Ocular depression, Rieger
[ncbi.nlm.nih.gov]
Hyperextensibility of joints and/or hernias - Present only in a minority of individuals (around 35%).
[symptoma.com]
This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly
[ncbi.nlm.nih.gov]
Nonimmunologic manifestations of HIES include a characteristic face, pathologic dentition, scoliosis, bone alterations, hyperextensible joints, and vascular abnormalities.
[ncbi.nlm.nih.gov]
Common findings among patients were recurrent fractures (in 57 percent of patients), hyperextensible joints (in 68 percent), and scoliosis (in 76 percent of patients 16 years
[scienceopen.com]
Our patient had hyperextensible joints including talipes cavus.
[idoj.in]
joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation.
[ncbi.nlm.nih.gov]
Ehlers-Danlos syndrome (EDS) is a rare hereditary disorder that results in skin hyperextensibility, joint hypermobility, and tissue fragility.
[medcomic.com]
[…] finger hyperextension that occurs with pushing off of a wall with the palms of the hands). [8] Advise patients to minimize joint trauma by avoiding joint hyperextension or
[emedicine.medscape.com]
Skin laxity, joint hyperextensibility, and bruisability are variable.
[emedicine.medscape.com]
Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III
[uwcpdx.org]
[…] skin, hypermobile joints and tissue fragility.
[medical-dictionary.thefreedictionary.com]
Shortened Limbs Short stubby fingers Waddling walk Joint pain (with age) Large range of joint movement (hyperextensibility) in hands, knees and ankles Limited range of motion
[littlepeopleuk.org]
an unusually large range of joint movement (hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips.
[lilliputiae.com]
“Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis
[lilliputiae.com]
Then, during childhood tall vertebral bodies, hip dislocation, transverse chest groove, winged scapulae and hyperextensible joints became more evident and the diagnosis of
[ijponline.biomedcentral.com]
From the age of 7–8 years triangular-shaped face, frontal bossing, transverse chest groove, winged scapulae and hyperextensible joints became very evident (Figures 1 a and
[ijponline.biomedcentral.com]
Potentially important abnormalities include hyperextensible joints (possible positioning implications), high arched palate (airway implications), pectus excavatum, and kyphoscoliosis
[openanesthesia.org]
Joint hyperextensibility is present in some, but not all, patients with Marfan syndrome.
[dermaamin.com]
Sternum deformity—pectus carinatum (outward displacement) or pectus excavatum (inward displacement)—is common, as are joint hyperextensibility (but usually small flexion contractures
[merckmanuals.com]
Short limb dwarfism very fine thin light hairs and eyebrows hyperextensible joints of hand and feet abnormalities of spine neutropenia defective antibody and cell mediated
[en.wikipedia.org]
Clinical: Microcephaly; severe mental retardation; hyperextensible joints; scoliosis; arachnodactyly; hypogonadism. McKusick VA.
[esanatos.com]
joints Head And Neck Teeth: prominent incisors Head And Neck Eyes: myopia decreased visual acuity retinal pigmentary degeneration Growth Weight: truncal obesity Growth Height
[malacards.org]
joints, scoliosis, and arachnodactyly.
[omim.org]
joints, muscle atrophy, large and soft hands with simian crease, and tapering of the fingers.
[accessanesthesiology.mhmedical.com]
Males present with moderate to severe developmental delay, coarse facies, large soft hands with short tapering fingers, hypotonia, joint hyperextensibility and skeletal changes
[ggc.org]
[…] musculoskeletal system presents as short thorax, bifid sternum, pectus excavatum or carinatum, vertebral dysplasia, kyphosis, scoliosis, delayed bone age, ligamental calcifications, hyperextensible
[accessanesthesiology.mhmedical.com]
It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive
[icd9data.com]
[…] of neck hyperextension [32].
[hindawi.com]
Careful positioning and avoidance of hyperextension of the neck are necessary.
[medicalhomeportal.org]
[…] atlantoaxial joint, requiring limited hyperextension of the neck all of which may complicate laryngoscopy and intubation [ 3 ].
[omicsonline.org]
It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive
[icd10data.com]
Patients present with severe airway obstructions, cranio-facial abnormalities, short neck, stiffening of the temporomandibular joints, anteriorly positioned larynx, unstable
[omicsonline.org]
hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart defects Complications of Down syndrome can involve
[emedicine.com]
[…] extremities Short, broad hands, with short fifth finger with hypoplasia of the middle phalanx and clinodactyly, along with single transverse palmar creases (~60% of patients) Joint
[emedicine.com]
joints * Clubfeet * Prominent large joints * Severe joint disease * Joint pain * Partial dislocation of hip * Spondyloepiphyseal dysplasia * Flat vertebrae * Underdevelopment
[checkorphan.org]
joints and arthritis ...
[ibis-birthdefects.org]
[…] and fragility, joint hypermobility, and abnormal wound healing.
[chginc.org]
joints • Small tilted pelvis • Excessive hairiness • Undescended testicles • Feeding difficulties • Respiratory infection • Cardiac anomalies • Vertebral abnormalities •
[aapos.org]
joints Small tilted pelvis Excessive hairiness Undescended testicles Feeding difficulties Respiratory infection Cardiac anomalies Vertebral abnormalities Gastroesophageal
[aapos.org]
[…] bridge • Malformed ears • High arched palate • Extra fold of skin on either side of the nose • Small head (microcephaly) • Small lower jaw • Flat red birthmark on forehead • Hyperextensible
[aapos.org]
[…] with mutations in LRP5 gene ( low density lipoprotein receptor-related protein-5) Clinical-manifestations short stature osteoporosis spontaneous fractures kyphoscoliosis hyperextensible
[anvita.info]
joints, and wide metaphyses.
[iofbonehealth.org]
joints microcephaly normal intelligence most cases, some mild mental retardation More General Terms genetic disease of bone/skeletal system genetic disease of the eye Additional
[anvita.info]
joints, increased tendon reflexes and growth retardation already beginning in the womb combined with reduced mental development.
[de.zxc.wiki]
Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular
[jamanetwork.com]
Ligamentous laxity; Osteochondritis dissecans; Proximal finger joint hyperextensibility; Flexed distal finger joints; Genu recurvatum; Flat feet Skin: Stretchable skin Spine
[findzebra.com]
Additional symptoms associated with OI type I include loose (hyperextensible) joints, low muscle tone (hypotonia), and thin skin that bruises easily.
[rarediseases.org]
Hyperextensibility" [1] Associated Co-morbidities Joint hypermobility Hearing impairment/Loss Excessive diaphoresis Cardiovascular complications Scoliosis Pectus deformity
[physio-pedia.com]
(hyperextensible) Blue sclera Triangular face Spinal curvature Teeth possibly brittle (dentinogenesis imperfecta) Hearing loss in 20s or 30s Type II Most severe form Usually
[en.wikibooks.org]
Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints.
[mdpi.com]
[…] of the joints.
[healio.com]
[…] straightjacket and her countenance is dull. (6) Other abnormalities often found, but which cannot be determined to exist from this painting, include dwarfism, sexual immaturity, and hyperextensibility
[healio.com]
TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility.
[david.ncifcrf.gov]
疾病相关 Tenascin-X deficiency (TNXD) [MIM:606408]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility
[abcam.cn]
Involvement in disease Tenascin-X deficiency (TNXD) [MIM:606408]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and
[abcam.com]
In addition, affected individuals may exhibit unusually flexible (hyperextensible) joints, diminished muscle tone (hypotonia), excess folds of skin (redundant skin), and/or
[rarediseases.org]
[…] abnormalities including excess (redundant) skin, numerous discolored elevated spots on the skin (maculopapular nevi), diminished muscle tone (hypotonia), and/or abnormally flexible (hyperextensible
[rarediseases.org]
Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes
[ncbi.nlm.nih.gov]
Other findings include cryptorchidism, proximal finger-joint hyperextensibility, flexed distal finger joints, stretchable skin, shawl and/or saddle-bag scrotum, widow’s peak
[medical-dictionary.thefreedictionary.com]
Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility
[ncbi.nlm.nih.gov]
Hypochondroplasia is a clinical entity characterized by a short stature and a range of skeletal malformations, occurring due to mutations in the fibroblast growth factor 3 gene, one of the key negative regulators of bone growth and development. A clinical suspicion must exist when typical signs and symptoms are[…]
[symptoma.com]
Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III
[uwcpdx.org]
They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal)
[ehlers-danlos.com]
Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
[icd10data.com]
Abstract The type II (mitis) variant of Ehlers-Danlos syndrome (EDS) is an autosomal dominant disorder characterized by mild skin hyperextensibility, mild joint hypermobility
[mdedge.com]
[…] skin, abnormal scarring, easy bruising, hyperextensible joints and generalized periodontitis Resembles type I, but is distinguished by early loss of teeth and characteristic
[en.wikibooks.org]
Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III
[uwcpdx.org]
Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III
[uwcpdx.org]
The primary characteristics are hyperextensible skin and joints, easy bruising, reduced wound healing, pseudotumours, and ocular defects.
[dermis.net]
Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
[icd10data.com]
Individuals with Hypermobile EDS classically present with hyperextensible joints and skin.
[3pointproducts.com]
Individuals of hypermobility joint syndrome often present with hyperextensible joints, chronic back pain, joint pain, among other phenotypic changes.
[acrabstracts.org]
Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III
[uwcpdx.org]
Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose ( hyperextensible ) joints that can lead
[elbiruniblogspotcom.blogspot.com]
joints that can lead to dislocations, and protrusion of organs through gaps in muscles (hernias).
[malacards.org]
Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose (hyperextensible) joints that can lead
[encyclopedia.pub]
Name Brittle Cornea Syndrome 1 Synonyms CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY, DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE, EHLERS-DANLOS
[mousephenotype.org]
Other names of the condition: EDS VIB Ehlers-Danlos syndrome type 6B Fragilitas oculi with joint hyperextensibility Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
[xpertdox.com]
Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB
[ukgtn.nhs.uk]
