Slender build MedGen UID: 376828 •Concept ID: C1850573 • Finding Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones
[ncbi.nlm.nih.gov]
Abnormality of head or neck Almond-shaped palpebral fissure Dental crowding Epicanthal fold High palate Long face Narrow face Prominent nasal bridge Upslanted palpebral fissure
[ncbi.nlm.nih.gov]
Abnormality of limbs Abnormal digit morphology Abnormality of the eye Strabismus Abnormality of the musculoskeletal system Abnormal cortical bone morphology Generalized hypotonia
[ncbi.nlm.nih.gov]
The main clinical manifestations include long limbs, long slender fingers, lens subluxation, abnormal cardiac valves, and aortic aneurysm.
[ncbi.nlm.nih.gov]
People with Marfan tend to be unusually tall, with long limbs and long, thin fingers.
[snpedia.com]
People with Marfan syndrome have a wide variety of problems, including eyesight defects, heart disease and abnormally long limb bones.
[web.archive.org]
limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification
[malacards.org]
limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses
[orpha.net]
Patients with SMMD have relatively long limbs, large head with a broad face and widely spaced eyes.
[ctgt.net]
Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty.
[xpertdox.com]
Other, rare features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, delayed teething (dentition
[ghr.nlm.nih.gov]
For example, they may have arachnodactyly, unusually long limbs, pectus excavatum or pectus carinatum, and scoliosis.
[ivami.com]
Some other skeletal abnormalities people with SGS may experience include joint hypermobility, clubfoot, scoliosis, camptodactyly, arachnodactyly, long limbs, and a chest which
[en.wikipedia.org]
For example, they may have arachnodactyly, unusually long limbs, pectus excavatum or pectus carinatum and scoliosis.
[ivami.com]
These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia,
[pubmed.ncbi.nlm.nih.gov]
Please enable JS and disable any ad blocker
[cairn.info]
[ more ] 0002979 Diaphyseal cortical sclerosis 0005045 Fibrosarcoma 0100244 Fractures of the long bones 0003084 Histiocytoma 0012315 Limb muscle weakness Limb weakness 0003690
[rarediseases.info.nih.gov]
Thin skin 0000963 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bowing of the legs Bowed legs Bowed lower limbs
[rarediseases.info.nih.gov]
Features include: Limbs proximal portions of the long limbs are small, giving a rhizomelic appearance long bones (typically humeri and femora) have a typical "telephone handle
[radiopaedia.org]
Individuals with this condition usually have long limbs and long and slender fingers and toes.
[luriechildrens.org]
People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly).
[snpedia.com]
Affected patients are usually tall with long limbs and possess a Marfan-like habitus.
[symptoma.com]
Arch., 306, 175, 1933.CrossRefGoogle Scholar Ollerenshaw, R., Congenital defects of the long bones of the lower limb.
[cambridge.org]
The defect also causes overgrowth in bones, resulting in long limbs and significant height.
[healthline.com]
Skeletal features are increased height, disproportionately long limbs, chest deformity, joint laxity, scoliosis and a narrow, highly arched palate with crowding of the teeth
[saintfrancis.com]
Visible symptoms may include: unusually tall height long limbs large, flat feet loose joints long, thin fingers a curved spine a chest bone (sternum) that sticks out or caves
[healthline.com]
The typical findings reflect the three phenotypes: (I) classic (long-limb) type, characterized by bowed long bones with normal caliber and moderate shortening; (II) short-limb
[musculoskeletalkey.com]
Findings that aided the radiological diagnosis of this condition in utero included absent ossification of two out of three long bones in each limb and elements of the vertebrae
[ncbi.nlm.nih.gov]
[…] vertebrates, and a boomerang-like shape of some long tubular bones.Differential diagnosisComprises other skeletal dysplasias with severe short-limbed dwarfism such as achondrogenesis
[malacards.org]
He presented the case of a 5-year-old girl named Gabrielle, who had disproportionately long limbs.
[emedicine.medscape.com]
People with Beals will have varying features of the disorder including long limbs, long fingers and toes, contractures of the joints, hyperflexible joints, club foot, crumpled
[lifewithbeals.blogspot.com]
Mar·fan syn·drome ( mahr-fahn' ), [MIM*154700] a connective tissue multisystemic disorder characterized by skeletal changes (arachnodactyly, long limbs, joint laxity, pectus
[medical-dictionary.thefreedictionary.com]
A long, non-functional Roux limb tip may cause persistent nausea, postprandial epigastric pain, and even a lack of satiety.
[websurg.com]
Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes
[linkedlifedata.com]
[…] and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).
[findzebra.com]
[…] and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). [1] This disease is named for Jean
[dictionnaire.sensagent.leparisien.fr]
[…] muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity, and enlargement of the long bones; and premature
[hilarispublisher.com]
IGDA syndrome Ilyina Amoashy Grygory syndrome Imaizumi Kuroki syndrome Immotile cilia syndrome, due to defective radial spokes Immotile cilia syndrome, due to excessively long
[en.wikipedia.org]
[…] frontotemporal dementia (see this term Muscle weakness affects the other limbs and respiratory muscles as the condition advances, eventually leading to respiratory or cardiac
[hilarispublisher.com]
Phocomelia shortened or absent long bones of the limbs Anorectal stenosis Absence of External Ears Alcohol Fetal Alcohol Syndrome (FAS) Microcephaly Intrauterine growth retardation
[slideplayer.com]
[from OMIM] Show allHide all Abnormality of head or neck Bifid nasal tip Depressed nasal bridge Long philtrum Abnormality of limbs Dislocated radial head Hypoplastic distal
[ncbi.nlm.nih.gov]
short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
[orpha.net]
The long tubular limb bones are abnormally short with a stocky appearance and relatively wide metaphyses with lateral spurs.
[jmg.bmj.com]
[…] dysplasia, matrilin-3 type Disease definition Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs
[orpha.net]
Patients appear tall and slender with long limbs and fingers (arachnodactyly). General muscular hypotonia and hyperlaxity of the joints are further features.
[accessanesthesiology.mhmedical.com]
The marfanoid body habitus entails a tall stature, arachnodactyly, long limbs, short halluces, long second toes, and sandal gap, increased arm span to height ratio, and reduced
[journals.sagepub.com]
A dictionary of medical eponyms Related people Jean-Pierre Fryns A familial syndrome marked by marfanoid habitus (tall stature with long and slim limbs, little subcutaneous
[whonamedit.com]
limbs, pectus excavatum, dislocation of lens, failure to thrive, mental retardation, psychiatric disturbances, and thromboembolic episodes; some patients have alleviation
[medical-dictionary.thefreedictionary.com]
Signs and symptoms of homocystinuria may vary widely, and patients can present with any of the following: Marfanoid appearance (this refers to the tall, thin build and long-limbed
[dermnetnz.org]
The disease may affect one or more of the systems below 1,2: eye: ectopia lentis CNS: seizures, dystonia, developmental delay skeletal: scoliosis, pectus excavatum, long limbs
[radiopaedia.org]
In some patients, pectus carinatum may be associated with Marfan syndrome, a connective tissue disorder that has the following symptoms: Long limbs and fingers Chest abnormalities
[my.clevelandclinic.org]
[…] bone of lower limb Neoplasm of uncertain behavior of long bone of upper limb Neoplasm of uncertain behavior of lumbar vertebral column Neoplasm of uncertain behavior of lunate
[emedcodes.com]
limb type, Camurati Engelmann disease type 2, Camurati-Engelmann disease, Canavan disease, Candida glabrata, Candidiasis familial chronic Page 10/68 mucocutaneous autosomal
[yumpu.com]
[…] hamate bone Neoplasm of uncertain behavior of hand bone Neoplasm of uncertain behavior of ilium Neoplasm of uncertain behavior of ischium Neoplasm of uncertain behavior of long
[icd9data.com]
[…] malformations, NO for long, slender nose and normal intelligence.EpidemiologyPrevalence is unknown, but the disease is rare.
[malacards.org]
[…] rapadilino syndrome Rapadilino syndrome [DOID:0050774] A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb
[diseases.jensenlab.org]
Main clinical features radial defect, patellar defect, cleft palate, diarrhea, dislocated joints and limb deformation, long nose and normal intelligence, poikiloderma and
[genatlas.medecine.univ-paris5.fr]
[…] undergrowth limb shortening Short limb Short limbs [ more ] 0009826 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Macrotia Large ears 0000400
[rarediseases.info.nih.gov]
[…] of shaft of long bone of the limbs [ more ] 0000940 Abnormality of epiphysis morphology Abnormal shape of end part of bone 0005930 Aplasia/Hypoplasia of the abdominal wall
[rarediseases.info.nih.gov]
Showing of 75 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormal diaphysis morphology Abnormal shape of shaft of long bone Abnormality
[rarediseases.info.nih.gov]
[…] by prolonged or excessive pressure Prosthesis Artificial limb Radius Long forearm bone on the thumb side Residual limb The remaining part of the limb, sometimes referred
[exphandprosthetics.com]
Proximal femoral focal deficiency (PFFD) Rare, non-hereditary birth defect affecting the hip joint and femur, resulting in a deformed hip joint and a shorter leg Radius Long
[limbs4kids.org.au]
[…] contracted muscles in a person’s residual limb to control the movements of the prosthesis Phalanges The long bones in the fingers and toes Phantom pain The feeling of pain
[exphandprosthetics.com]
[…] absence of one or more limbs).
[britannica.com]
Dataset HPO Gene-Disease Associations Category disease or phenotype associations Type phenotype Description Missing or malformed long bones of the upper limbs with the distal
[amp.pharm.mssm.edu]
long bones of the limbs.
[slideplayer.com]
[G. melos, limb, + rheos, stream, + osteon, bone, + - ōsis ] melorheostosis ; ivory bone formation rare hyperostosis of long bones of limbs, characterized by patchy linear
[medical-dictionary.thefreedictionary.com]
[G. melos, limb, + rheos, stream, + osteon, bone, + - ōsis ] melorheostosis a form of osteosclerosis, with linear tracks extending through the long bones.
[medical-dictionary.thefreedictionary.com]
It has a predilection for long bones of the limbs, although it can be seen almost anywhere.
[radiopaedia.org]
Features include: Limbs proximal portions of the long limbs are small, giving a rhizomelic appearance long bones (typically humeri and femora) have a typical "telephone handle
[pacs.de]
[…] shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial
[orpha.net]
Severe limb shortening Hypoplastic ilia Short, tubular long bones Metaphyseal cupping Hypoplastic ischia Hypoplastic pubis - Luton type - hypercellular resting cartilage,
[mnglabs.com]
