Acronym EDSSPD2 Synonyms EDSP2 Ehlers-Danlos syndrome, progeroid type, 2 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Indeed, the clinical presentation of our patient was suggestive for B4GALT7 -deficiency, since she presented narrow mouth, wide forehead, and single transverse palmar crease that were described only in spEDS- B4GALT7. [ojrd.biomedcentral.com]

As you can see, Ehlers-Danlos syndrome is a multi-systemic condition that presents differently in those affected. [edswellness.org]

[…] short stature and limb anomalies spEDS-B4GALT7 Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q79.6 OMIM: 130070 615349 UMLS: C1869122 MeSH: C536201 GARD: 9991 MedDRA: - The documents contained in this web site are presented [orpha.net]

• Short Stature

  EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. [uniprot.org]

  stature and limb anomalies (EDSSLA) [MIM:130070] 177,607,445(+) C/A coding_sequence_variant, missense_variant rs121917818 pathogenic, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA) [MIM:130070 [genecards.org]

  Severe short stature has been disclosed also in LRS patients, while data concerning muscle hypotonia were not available (Table 1 ). [ojrd.biomedcentral.com]

• Single Transverse Palmar Crease

  She had an interrupted single transverse palmar crease. Deep tendon reflexes were sluggish. [cags.org.ae]

  Other frequent features comprised facial dysmorphism, hyperextensible skin, joint hypermobility (JHM), single transverse palmar crease, severe hypermetropia, limb bowing, and osteopenia, [ 2 ]. [ojrd.biomedcentral.com]

  transverse palmar crease Bladder diverticulum Cleft soft palate Keloids Stroke Arterial rupture High-frequency sensorineural hearing impairment Kyphoscoliosis Adrenal hyperplasia Pes planus Congenital adrenal hyperplasia Precocious atherosclerosis Muscle [mendelian.co]

  transverse palmar crease 0000954 Slender toe Narrow toe 0011308 Small face Short and narrow face Small facies [ more ] 0000274 Showing of 64 | Last updated: 7/1/2019 Spondylodysplastic Ehlers-Danlos syndrome (spEDS) can be caused by changes ( mutations [rarediseases.info.nih.gov]

• Easy Bruising

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

  Soft skin with normal or only slightly increased extensibility and easy bruising. Recurrent dislocation or subluxation of multiple joints. Chronic joint, limb, and/or back pain. [centogene.com]

  In contrast, we recently reported a syndrome of joint hyperlaxity, easy bruising, pelvic organs prolapses, premature rupture of the membranes and rectal bleeding associated with a non-glycine sequence variant of the COL3A1 gene (P435T) [ 54 ]. [ojrd.biomedcentral.com]

  This type is characterized by excessive elasticity of skin, easy bruising, extreme mobility of joints and tumor-like growths on skin Hypermobility type : The cause of this type is unknown in most cases. [dovemed.com]

• Blue Sclera

  In addition, she showed some common gene-specific minor criteria, i.e., blue sclerae, sparse scalp hair, flat face, osteopenia, and joint hypermobility, but none of those that are unique of the other types (Table 2 ). [ojrd.biomedcentral.com]

  (osteopenia) Mild intellectual disabilities or learning disabilities Eye problems Characteristic facial features (triangular face, wide-spaced eyes, proptosis ("bulging" eyes), narrow mouth, low-set ears, sparse scalp hair, flat face, wide forehead, blue [rarediseases.info.nih.gov]

  Hyperhidrosis Low-set ears Epicanthus Short chin Corneal scarring Myopia Polyhydramnios Patent ductus arteriosus Retrognathia Microcornea Thin skin Cutis laxa Hiatus hernia Downslanted palpebral fissures Seizures Increased susceptibility to fractures Blue [mendelian.co]

• Corneal Opacity

  opacity Episodic fever Nail dystrophy Decreased antibody level in blood Nail dysplasia Febrile seizures Skin ulcer Opacification of the corneal stroma Thickened skin Emotional lability Osteomyelitis Keratitis Self-injurious behavior Impaired pain sensation [mendelian.co]

• Sparse Hair

  Other common signs are thin & sparse hair, an overly large head at infancy (macrocephaly), loose but elastic skin on the face, loose joints that have an abnormal range of motion (joint laxity and hypermobility), low weight for age with an inability to [diseaseinfosearch.org]

  hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. [orpha.net]

• Loose Elastic Skin

  elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. [orpha.net]

  Like people with other types of EDS, people with Spondylodysplastic EDS have unusually flexible joints; loose, elastic skin; and easy scarring. [rarediseases.info.nih.gov]

• Hair Hypoplasia

  KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4 Del Dup NGS Cardiac valvular dysplasia, X-linked FLNA Del Dup NGS Cartilage-hair [ctgt.net]

  […] disease recessive intermediate D Chediak-Higashi syndrome + cleft lip-palate-ectodermal dysplasia syndrome Cockayne syndrome + cold-induced sweating syndrome + craniolenticulosutural dysplasia cystic fibrosis + dilated cardiomyopathy with woolly hair [rgd.mcw.edu]

• Osteoporosis

  osteogenesis imperfecta type 3 AD 78 COL1A2 120160 osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; Ehlers-Danlos syndrome, cardiac valvular form; osteogenesis imperfecta type 3; Ehlers-Danlos syndrome arthrochalasia type [centogene.com]

  People with mutations in this gene may have kyphoscoliosis, joint hypermobility, contractures, peculiar face, slender and tapered fingers, abnormal teeth, osteoporosis, aortic aneurisms, and lung problems. [rarediseases.info.nih.gov]

  Conductive hearing impairment Wide nasal bridge Abnormality of the genital system Macrocephaly Atypical scarring of skin Osteolysis Joint dislocation Bowing of the long bones Joint hypermobility Hypermetropia Pulmonic stenosis Joint hyperflexibility Osteoporosis [mendelian.co]

  […] mellitus with congenital hypothyroidism nephronophthisis + Netherton syndrome Nijmegen breakage syndrome + nonphotosensitive trichothiodystrophy + Occipital Horn Syndrome oculocutaneous albinism + OI/EDS Combined Syndrome orofaciodigital syndrome V osteoporosis-pseudoglioma [rgd.mcw.edu]

• Muscle Hypotonia

  Severe short stature has been disclosed also in LRS patients, while data concerning muscle hypotonia were not available (Table 1 ). [ojrd.biomedcentral.com]

  Severe muscle hypotonia at birth. Progressive scoliosis present at birth. Scleral fragility and rupture of the globe. [centogene.com]

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

  Individuals with muscle hypotonia and joint instability with chronic pain may have to adjust lifestyle and professional choices accordingly. [nature.com]

• Coxa Valga

  valga Coxa vara Mutism Rickets Dysphasia Prolonged bleeding time Diaphragmatic paralysis Progressive proximal muscle weakness Osteomalacia Slow progression Hypoplasia of the corpus callosum Intellectual disability, mild Constipation Muscular hypotonia [mendelian.co]

  […] ears [ more ] 0000387 Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Autosomal recessive inheritance 0000007 Bifid uvula 0000193 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Coxa [rarediseases.info.nih.gov]

• Small Face

  face Short and narrow face Small facies [ more ] 0000274 Showing of 64 | Last updated: 7/1/2019 Spondylodysplastic Ehlers-Danlos syndrome (spEDS) can be caused by changes ( mutations ) in both of a person's copies of the B4GALT7 gene, which is located [rarediseases.info.nih.gov]

  small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. [mendelian.co]

• Psychomotor Retardation

  retardation, hypotonia, and defective wound healing with atrophic scars. [orpha.net]

• Global Developmental Delay

  […] speech and language development Elbow dislocation Abnormal facial shape Abnormality of the dentition Elbow flexion contracture Sparse and thin eyebrow Fine hair Nail dysplasia Delayed eruption of teeth Carious teeth Severe global developmental delay [mendelian.co]

  CLINICAL HISTORY: •5 year old female with global developmental delay, pre- and post-natal growth restriction, and striking joint laxity. [epostersonline.com]

  developmental delay 0001263 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Lipodystrophy Inability to make and keep healthy fat tissue 0009125 Long toe Increased length of toes Long toes [ more ] 0010511 [rarediseases.info.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

People with spondylodysplastic Ehlers-Danlos syndrome can benefit from a variety of treatments depending on their symptoms. [rarediseases.info.nih.gov]

If you or your child has been diagnosed with EDS-PF, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. [diseaseinfosearch.org]

Due to different clinical symptoms, natural history and prognosis, EDS type IV should be assessed separately within the group of EDS. [ojrd.biomedcentral.com]

Etiology Arthrochalasic EDS is due to abnormal maturation of the alpha1 (I) (former type VIIA) or alpha2 (I) (former type VIIB) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. [orpha.net]

•Due to the limited number of reported cases, a different genetic etiology of the ocular findings cannot be excluded at this time. REFERENCES: Faiyaz-Ul-Haque, M., S.H.E. Zaidi, M. Al-Ali, M.S. Al-Mureikhi, S. Kennedy, G. Al-Thani, L. Tsui, and A.S. [epostersonline.com]

(Etiology) Ehlers-Danlos Syndrome is an inherited disorder caused predominantly by heritable gene mutations. [dovemed.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Summary Epidemiology The incidence of the arthrochalasic form (formerly divided into types VIIA and VIIB) is very low. [orpha.net]

Epidemiology The Ehlers-Danlos syndromes are a group of hereditary disorders of connective tissue, whose prevalence is estimated between 1/10,000 and 1/25,000, with no ethnic predisposition. [ojrd.biomedcentral.com]

Ehlers-Danlos Syndrome is a genetic condition, and therefore, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

Identifying any significant health risks may help prevent severe complications by vigilant screening and lifestyle alterations. Krakow D. Heritable diseases of connective tissue. In: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, eds. [medlineplus.gov]

(B) Dysfunction of B4GALT7 prevents addition of the first galactose (Gal) to the xylose of the linker tetrasaccharide of proteoglycan. Similar disruption to GAG structure results from abnormal expression of B3GALT6 (C) and D4ST1 (D). [epostersonline.com]