EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin [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]

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]

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]

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

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]

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]

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]

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]

Other distinctive features are delayed closure of the fontanels, characteristic facies, edema of the eyelids, blue sclerae, umbilical hernia, short fingers, and short stature. [nature.com]

History of hypotonia, hyporeflexia, motor developmental delay, and moderate hyperopia and esotropia. [epostersonline.com]

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]

hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. [mendelian.co]

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

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]

Additional clinical features present in some of these patients were hyperlax skin and joints, and/or dilation, aneurysms, and stenosis of the pulmonary arteries and ascending aorta. [jmg.bmj.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]

[…] caused by mutations in the SLC39A13 gene, encoding the membrane-bound zinc transporter SLC39A13. 37 The RIN2-syndrome is characterized by severe progressive scoliosis, progressive facial coarsening, gingival hypertrophy, sparse hair, and skin and joint hyperlaxity [nature.com]

The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Several genes have been implicated to result in EDS phenotypes. [ncbi.nlm.nih.gov]

joint hypermobility, and tissue fragility. [link.springer.com]

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]

face Gingivitis Genu recurvatum Short clavicles Proportionate short stature Atrophic scars Bilateral cryptorchidism Radioulnar synostosis Accelerated skeletal maturation Hypoplastic fingernail Keratoconjunctivitis sicca Facial wrinkling Hypoplasia of [mendelian.co]

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

History of hypotonia, hyporeflexia, motor developmental delay, and moderate hyperopia and esotropia. [epostersonline.com]

Self-mutilation Aseptic necrosis Echolalia Irritability Esophagitis Femoral hernia Excessive wrinkled skin Avascular necrosis of the capital femoral epiphysis Abnormality of subcutaneous fat tissue Milia Nevus Infantile onset Behavioral abnormality Hyporeflexia [mendelian.co]