BACKGROUND/AIMS: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically
[ncbi.nlm.nih.gov]
short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR).
[doi.org]
(Print) eISSN: 1663-2826 (Online) For additional information: https://www.karger.com/HRP Abstract Background/Aims: Growth hormone insensitivity (GHI) is characterized by severe
[doi.org]
One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed.
[ncbi.nlm.nih.gov]
Seckel syndrome is an autosomal recessive condition with severe short stature and facial and neurological anomalies.
[ncbi.nlm.nih.gov]
The Seckel syndrome or "bird-headed" dwarfism associates a severe short stature, mental deficiency and various malformations with characteristic facial appearance.
[ncbi.nlm.nih.gov]
Patients with MPS VI have bone abnormalities, severe short stature, corneal clouding, lung problems, liver and spleen enlargement and heart valve abnormalities.
[mpssociety.org]
The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.
[orpha.net]
Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (GAG, generally >100 microgram/mg creatinine), severe dysostosis multiplex, short
[orpha.net]
They are highly heterogeneous and can cause a broad phenotypic spectrum from mild and isolated short stature to severe and syndromic short stature [1, 5, 6].
[amjcaserep.com]
Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature. Al Motawa MNA, Al Shehri MSS, Al Buali MJ, Al Agnam AAM.
[pubmed.ncbi.nlm.nih.gov]
Short Stature with Review of the Literature. 62 Al Motawa MNA...Al Agnam AAM 34057920 2021 49 Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion
[malacards.org]
Core features of these groups include severe intrauterine and postnatal growth deficiency, severe postnatal short stature, primary microcephaly, characteristic facial features
[dnatesting.uchicago.edu]
Symptoms & Signs The disorder has characteristic symptoms that may include low birth weight, short stature & severe progressive growth delays.
[signssymptoms.org]
Height: Individuals with type III OI have severe short stature by definition; individuals with type IV OI recruited to the study will have height less than the 3rd percentile
[clinicaltrials.gov]
They also have short stature, severe limb deformity, wormian bones, and progressive scoliosis which can be severe.
[emedicine.medscape.com]
Type II includes severe bone deformities with fractures and short stature. Type III and Type IV have similar symptoms that are less severe than Type II.
[utswmedicine.org]
We report on a genetically diagnosed NS/LAH patient manifesting severe short stature (-3.85 SDs) with low serum level of IGF1, 30 ng/ml.
[ncbi.nlm.nih.gov]
A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS -3.7) and bone age of 6 years.
[ncbi.nlm.nih.gov]
By definition, about 2.5% of children show a short stature due to several causes.
[hindawi.com]
He presented with postnatal severe short stature, progressive lower limb deformity with rhizomelic shortening of the long bones, prominent joints with limited mobility in
[ncbi.nlm.nih.gov]
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened
[ncbi.nlm.nih.gov]
short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short sacroiliac notch 0003185 Short tubular bones of the hand 0001248 Tibial metaphyseal
[rarediseases.info.nih.gov]
Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal
[ncbi.nlm.nih.gov]
short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened
[rarediseases.info.nih.gov]
Small jaw Small lower jaw [ more ] 0000347 Micromelia Smaller or shorter than typical limbs 0002983 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Severe
[rarediseases.info.nih.gov]
short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Split hand Claw hand Claw hand deformities
[rarediseases.info.nih.gov]
[…] apnea 0002870 Pes cavus High-arched foot 0001761 Ptosis Drooping upper eyelid 0000508 Recurrent otitis media Recurrent middle ear infection 0000403 Scaphocephaly 0030799 Severe
[rarediseases.info.nih.gov]
Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.
[scienceopen.com]
Based on genetic studies in children with severe short stature of unknown etiology it has been suggested that monogenic causes of short stature are underdiagnosed in the pediatric
[blueprintgenetics.com]
Factors that increase the likelihood for a monogenic cause of short stature are severe GH deficiency, multiple pituitary hormone deficiency, unequivocal GH insensitivity,
[blueprintgenetics.com]
Patients with MPS VI have bone abnormalities, severe short stature, corneal clouding, lung problems, liver and spleen enlargement and heart valve abnormalities.
[mpssociety.org]
MPS patients present with several somatic manifestations, including short stature, musculoskeletal abnormalities, and cardiorespiratory dysfunction, and several primary and
[ncbi.nlm.nih.gov]
The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.
[orpha.net]
BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.
[ncbi.nlm.nih.gov]
Prognosis In the absence of severe complications (spinal cord compression) associated with spinal malformations, life expectancy is good but the short stature and deformity
[orpha.net]
[…] are usually severe.
[orpha.net]
A mutation of a ‘major gene’ (monogenic disease) is usually considered, when the short stature is severe, under ‐3DS or when the short stature is associated with malformative
[intechopen.com]
Abstract Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies,
[ncbi.nlm.nih.gov]
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. J Med Genet. 2018;55:403–7.
[ncbi.nlm.nih.gov]
Slipped capital femoral epiphysis has been described in several syndromes associated with short stature and endocrine disturbances.
[ncbi.nlm.nih.gov]
RSS is characterized by severe intrauterine growth retardation, postnatal short stature, asymmetry of the face, body, and limbs, short and incurved fifth fingers, broad forehead
[ncbi.nlm.nih.gov]
First, the father of patient 5 who had the same IGF1R frameshift variant did not show severe short stature.
[clinicalepigeneticsjournal.biomedcentral.com]
Affiliated tissues include thyroid and bone, and related phenotypes are abnormal cortical bone morphology and severe short stature OMIM® : 57 The diagnostic hallmarks of Weismann-Netter
[malacards.org]
Department of Pediatrics, Faculty of Nursing, University of Athens, Athens, Greece INTRODUCTION Among the several causes of short stature is pycnodysostosis, also known as
[hormones.gr]
short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Showing of 7 | Last updated: 6/1/2019 Making
[rarediseases.info.nih.gov]
Platy-spondyly associated with short stature, severe hip changes, distal shortening of ulna, and signs of peripheral dysostosis, with short hands and feet, occurs in spondyloperipheral
[rrnursingschool.biz]
Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and
[vdocuments.mx]
Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal
[ncbi.nlm.nih.gov]
short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened
[rarediseases.info.nih.gov]
[…] by severe disproportionate short stature of prenatal onset.
[emedicine.medscape.com]
A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), glaucoma, band keratopathy, mild cataract and short stature.
[ncbi.nlm.nih.gov]
Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l).
[ncbi.nlm.nih.gov]
Kniest, who first described the condition in 1952, and his patient, who, at the age of 50 years is severely handicapped with short stature, restricted joint mobility, and
[ncbi.nlm.nih.gov]
Spranger et al in 1997 reported the same patient, then aged 50 years and severely handicapped with short stature, restricted joint mobility, and blindness, but was mentally
[whonamedit.com]
Course and prognosis In severe cases, short stature, prominent knees, cleft palate and clubfeet are noted at birth.
[raredisorders.imedpub.com]
We describe a 17-year-old girl with severe obesity, short stature, and intellectual disability, without hypogonadism and history of neonatal hypotonia, who was suspected to
[ncbi.nlm.nih.gov]
People with Angelman syndrome (AS) have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic
[urmc.rochester.edu]
[…] bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism).
[malacards.org]
Rare diseases Search Search for a rare disease Intellectual disability-myopathy-short stature-endocrine defect syndrome Disease definition Intellectual disability-myopathy-short
[orpha.net]
[…] mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of
[onlinelibrary.wiley.com]
Spine and rib anomalies are usually not present and short stature is less severe. This panel includes sequence deletion/duplication analysis of all the listed genes.
[dnatesting.uchicago.edu]
Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia.
[ncbi.nlm.nih.gov]
There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis.
[rareguru.com]
Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal
[ncbi.nlm.nih.gov]
short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened
[rarediseases.info.nih.gov]
[…] by severe disproportionate short stature of prenatal onset.
[emedicine.medscape.com]
Compared to other children referred for evaluation of short stature, children with SOD were younger (mean age 3.7 +/- 3.6 vs 8.6 +/- 4.9 years), had less severe short stature
[ncbi.nlm.nih.gov]
short stature and insignificant plasmatic IGF-1 levels.
[scielo.br]
Most commonly, pituitary hypoplasia causes growth hormone deficiency, which results in slow growth and unusually short stature.
[ghr.nlm.nih.gov]
A case is presented of a prepubertal girl with the characteristic somatic features of Albright's hereditary osteodystrophy, including severe short stature, cataracts and shortening
[ncbi.nlm.nih.gov]
AHO is a rare syndrome that's characterized by a variety of several distinct physical features, including a short stature, obesity, round face, cutaneous ossifications, brachydactyly
[doi.org]
[…] rickets and short stature by 1-2 years 22 Rickets:Differential diagnosis Hypophosphatemic Rickets Nutritional phosphate deficiency Prematurity Decreased intestinal absorption
[slideplayer.com]
Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill
[ncbi.nlm.nih.gov]
As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA.
[ghr.nlm.nih.gov]
[…] growth retardation, to partial deficiency, with slightly short stature.
[endocrine-abstracts.org]
Clinical features and severity of symptoms of MPS IVA are widely variable, but may include skeletal dysplasia, short stature, dental anomalies, corneal clouding, respiratory
[neurology.testcatalog.org]
[…] pain, mild facial changes, short stature, normal joint movement, normal intelligence MPS I[edit] MPS I is divided into three subtypes based on severity of symptoms.
[en.wikipedia.org]
[…] pain Mild facial changes Short stature Normal joint movement Normal intelligence MPS I MPS I is divided into three subtypes based on severity of symptoms.
[wikidoc.org]
[…] pain, mild facial changes, short stature, normal joint movement, normal intelligence MPS I[edit] MPS I is divided into three subtypes based on severity of symptoms.
[en.wikipedia.org]
Clinical features and disease severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities
[news-medical.net]
Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities
[rarediseases.org]
[…] pain, mild facial changes, short stature, normal joint movement, normal intelligence MPS I [ edit ] MPS I is divided into three subtypes based on severity of symptoms.
[en.wikipedia.org]
Clinical features and disease severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities
[news-medical.net]
Symptoms of Morquio syndrome include: Short stature, with a very short torso Abnormal bone and spine development, including severe scoliosis Bell-shaped chest with ribs flared
[chop.edu]
