Bilateral microphthalmos ; Cataract ; Cigarette-paper scars ; Decreased muscle mass ; Excessive skin wrinkling on dorsum of hands and fingers ; Genu recurvatum ; Hearing impairment ; Hip dislocation ; Hyperextensible skin ; Inguinal hernia ; Intellectual disability [m.mousephenotype.org]

Ears: hearing loss Head And Neck Eyes: cataracts small eyes Clinical features from OMIM: 608763 Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 32 (show all 15) # Description HPO Frequency HPO Source Accession 1 intellectual disability [malacards.org]

[…] syndrome; pseudo-torch syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: UMLS ORPHANET OMIM More info about PSEUDO-TORCH SYNDROME 1; PTORCH1 Low match [mendelian.co]

Chromosome abnormalities occur in approximately: More information Chapter 4: Eligibility Categories 23 Chapter 4: Eligibility Categories In this chapter you will: learn the different special education categories 24 IDEA lists different disability categories [docplayer.net]

Symptoms via clinical synopsis from OMIM: 57 Genitourinary External Genitalia Male: inguinal hernia Muscle Soft Tissue: decreased muscle mass Skeletal Pelvis: hip dislocation Skin Nails Hair Skin: excessive skin wrinkling on dorsum of hands and fingers [malacards.org]

hernia ; Intellectual disability ; Joint laxity ; Narrow face ; Narrow palpebral fissure ; Pes planus Associated Genes - Mouse Orthologs - Source OMIM:608763 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI [m.mousephenotype.org]

hernia Broad ribs Chronic lung disease Ureteropelvic junction obstruction Failure to thrive Ptosis Respiratory insufficiency Craniosynostosis Death in infancy Round face Rhizomelia Delayed gross motor development Delayed cranial suture closure Respiratory [mendelian.co]

bleeding and other potentially life-threatening complications. [ncbi.nlm.nih.gov]

Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliotic, classical, and classical-like types, can cause unpredictable tearing (rupture) of blood vessels, leading to internal bleeding and other potentially [ghr.nlm.nih.gov]

Ehlers-Danlos Syndrome, Cardiac Valvular Form EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 Ehlers-Danlos Syndrome, Musculocontractural Type 1 Ehlers-Danlos Syndrome, Musculocontractural Type 2 EHLERS-DANLOS SYNDROME, PERIODONTAL [rgd.mcw.edu]

Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. Am. J. Med. Genet. 155A: 742-747, 2011. [4] Arneson, M. A., Hammerschmidt, D. E., Furcht, L. T., King, R. A. [checkorphan.org]

The periodontal type causes abnormalities of the teeth and gums. [from GHR ] more IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

There are some further, little seen types of Ehlers Danlos syndrome, as follows: EDS Type VIII: This type is similar to the Classical Type, except that in addition it presents with periodontal friability. [rareconnect.org]

The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. [ghr.nlm.nih.gov]

Symptoms via clinical synopsis from OMIM: 57 Genitourinary External Genitalia Male: inguinal hernia Muscle Soft Tissue: decreased muscle mass Skeletal Pelvis: hip dislocation Skin Nails Hair Skin: excessive skin wrinkling on dorsum of hands and fingers [malacards.org]

Classification unclassified Phenotypes Autosomal recessive inheritance ; Bilateral microphthalmos ; Cataract ; Cigarette-paper scars ; Decreased muscle mass ; Excessive skin wrinkling on dorsum of hands and fingers ; Genu recurvatum ; Hearing impairment ; Hip [m.mousephenotype.org]

Clinical description The disease is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Other signs include hyperextensible skin, fragile tissues with atrophic scars, and muscular hypotonia. [orpha.net]

Minimal criteria for aEDS are congenital bilateral hip dislocation (major criterion 1) plus either: skin hyperextensibility (major criterion 3); or severe GJH (major criterion 2) with at least two minor criteria. [ehlers-danlos.com]

Formerly called EDS type VII, the distinguishing feature is congenital hip dislocation. Severe joint hypermobility with recurrent dislocations and subluxations are common, which may lead to early and/or severe osteoarthritis. [orthohoda.blogspot.com]

eyes Clinical features from OMIM: 608763 Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 32 (show all 15) # Description HPO Frequency HPO Source Accession 1 intellectual disability 32 HP:0001249 2 inguinal hernia 32 HP:0000023 [malacards.org]

AND CATARACT Classification unclassified Phenotypes Autosomal recessive inheritance ; Bilateral microphthalmos ; Cataract ; Cigarette-paper scars ; Decreased muscle mass ; Excessive skin wrinkling on dorsum of hands and fingers ; Genu recurvatum ; Hearing [m.mousephenotype.org]

impairment 32 HP:0000365 4 cataract 32 HP:0000518 5 pes planus 32 HP:0001763 6 decreased muscle mass 32 HP:0003199 7 genu recurvatum 32 HP:0002816 8 joint laxity 32 HP:0001388 9 hip dislocation 32 HP:0002827 10 narrow face 32 HP:0000275 11 hyperextensible [malacards.org]

Diseases related with Hearing impairment and Joint laxity In the following list you will find some of the most common rare diseases related to Hearing impairment and Joint laxity that can help you solving undiagnosed cases. [mendelian.co]

Journal of anxiety disorders 2016 Disorder-specific (DS-CBT) and transdiagnostic (TD-CBT) cognitive behaviour therapy have both been used to treat social anxiety… (More) Artur V Vasconcelos 2010 Three modifications of the symmetric algebra of a module [semanticscholar.org]

face Head And Neck Ears: hearing loss Head And Neck Eyes: cataracts small eyes Clinical features from OMIM: 608763 Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 32 (show all 15) # Description HPO Frequency HPO Source Accession [malacards.org]

face ; Narrow palpebral fissure ; Pes planus Associated Genes - Mouse Orthologs - Source OMIM:608763 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models [m.mousephenotype.org]