It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder
[icd9data.com]
The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of
[ncbi.nlm.nih.gov]
On physical examination he presented with marfanoid habitus. Pneumothorax was managed conservatively with resolution.
[ncbi.nlm.nih.gov]
We describe a girl in whom tall stature was a dominant feature. Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build.
[endocrine-abstracts.org]
A screening breast exam noted some development consistent with her ectomorphic body type.
[hindawi.com]
There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus.
[ijem.in]
stature Disproportionate tall stature MedGen UID: 323048 Concept ID: C1836996 Finding: Finding Growth abnormality See: Feature record | Search on this feature Obesity Obesity
[ncbi.nlm.nih.gov]
A screening breast exam noted some development consistent with her ectomorphic body type.
[hindawi.com]
Both affected individuals had a marfanoid habitus and no neurological features.
[ingentaconnect.com]
Risk Factors See Primary Spontaneous Pneumothorax regarding body habitus Tall Stature Low BMI See Secondary causes above Tobacco Abuse Increases the risk of both primary and
[fpnotebook.com]
[…] linked to a variety of factors, including distal airway inflammation [ 21 – 26 ], hereditary predisposition [ 27 ], anatomical abnormalities of the bronchial tree [ 28 ], ectomorphic
[err.ersjournals.com]
On physical examination he presented with marfanoid habitus. Pneumothorax was managed conservatively with resolution.
[ncbi.nlm.nih.gov]
On examination, she had dolicocephaly, arachnodactyly, high arched palate, she was tall statured (height 165 cm; [Figure 1] ), her arm span (176 cm) was more than her height
[ijem.in]
A screening breast exam noted some development consistent with her ectomorphic body type.
[hindawi.com]
Am J Med Genet 1994; 51:81 308 Jacob et al: Perrault Syndrome with Marfanoid Habitus 7.
[kundoc.com]
Spontaneous pneumothorax Primary (idiopathic or simple pneumothorax) Ruptured subpleural apical blebs Risk factors Family history Male gender Asthenic body habitus (slim, tall
[amboss.com]
[…] may be linked to a variety of factors, including distal airway inflammation [21–26], hereditary predisposition [27], anatomical abnormalities of the bronchial tree [28], ectomorphic
[err.ersjournals.com]
Causes of pneumothorax Primary spontaneous pneumothorax occurs more often in smokers and patients with Marfanoid habitus.
[ceaccp.oxfordjournals.org]
Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched
[patient.info]
Some patients have a striking marfanoid habitus, which with the scleral fragility, might clinically resemble homocystinuria.
[medicalhomeportal.org]
Autosomal recessive disease caused by cystathionine synthase deficiency Patients normal at birth, then begin to develop developmental delays History / PE : Marfan features (tall
[medlibes.com]
Decreased body height Small stature [ more ] 0004322 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Tall stature Increased body height 0000098
[rarediseases.info.nih.gov]
habitus, hypertonia, osteoporosis and unsteady gait.
[ncbi.nlm.nih.gov]
[…] palate Disproportionate tall stature Slender finger Pyloric stenosis Microcornea Anal stenosis Partial agenesis of the corpus callosum Relative macrocephaly Delayed closure
[mendelian.co]
Type 9 (Disproportionate tall stature) Arthrogryposis (Disproportionate tall stature) Brittle cornea syndrome (Disproportionate tall stature) Camurati-Engelmann disease ..
[familydiagnosis.com]
TY - JOUR T1 - Marfanoid habitus with abnormal situs.
[unboundmedicine.com]
[…] pectus carinatum 31 HP:0000768 5 genu recurvatum 31 HP:0002816 6 myopia 31 HP:0000545 7 mitral valve prolapse 31 HP:0001634 8 arachnodactyly 31 HP:0001166 9 disproportionate tall
[malacards.org]
stature 0001519 Elevated calcitonin 0003528 Elevated urinary epinephrine 0003639 Failure to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more
[rarediseases.info.nih.gov]
[…] to search autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid
[wikidata.org]
Introduction: Manifestations of MEN2B include medullary carcinoma of thyroid (MCT), pheochromocytoma, and a number of somatic mutations like marfanoid habitus, mucosal neuromas
[endocrine-abstracts.org]
Causes - Sillence syndrome Other Possible Causes of these Symptoms * Abnormal curvature of the spine * Club feet * Short head * Tall stature Prevention - Sillence syndrome
[checkorphan.org]
Marfanoid habitus is absent.
[rheumatologyadvisor.com]
Fibrillin I gene polymorphism is associated with tall stature of normal individuals. Hum Genet. 2007;120(5):733–5.
[bmcmusculoskeletdisord.biomedcentral.com]
stature Increased body height 0000098 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Umbilical hernia 0001537
[rarediseases.info.nih.gov]
habitus, very low BMI, long narrow face, or arachnodactyly.
[ncbi.nlm.nih.gov]
However, the most striking feature in both patients was a marfanoid habitus, with long and slender morphotype, a very low BMI, long narrow face, and arachnodactyly.
[nature.com]
not elsewhere classified NOS constitutional Laron-type psychosocial ( E 344 ) Constitutional tall stature ( E 345 ) Androgen resistance syndrome Reifenstein's syndrome
[psychology.wikia.com]
Without treatment, symptoms vary widely and may present at different ages, ranging from lens dislocation, poor vision, developmental delays, marfanoid habitus, and acute thromboembolism
[medicalhomeportal.org]
not elsewhere classified NOS constitutional Laron-type psychosocial ( E34.4 ) Constitutional tall stature ( E34.5 ) Androgen resistance syndrome Reifenstein's syndrome
[wikidoc.org]
stature Increased body height 0000098 Thin skin 0000963 Showing of 56 | Last updated: 5/1/2019 Kyphoscoliotic Ehlers-Danlos syndrome (EDS) is caused by changes ( mutations
[rarediseases.info.nih.gov]
They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint
[semanticscholar.org]
Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia.
[ehlersdanlos.ca]
Describe when treatment is indicated for children with short and tall stature.
[pedsinreview.aappublications.org]
[…] aortic manifestations and have craniosynostosis with a Marfanoid habitus.
[nature.com]
stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0001519 12 joint hypermobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001382 13 downslanted palpebral fissures
[malacards.org]
Familial Scaphocephaly Syndrome, Fgfr2-Related Bent Bone Dysplasia AD 98 140 of 143 FGFR3 Achondroplasia With Developmental Delay And Acanthosis Nigricans, Camptodactyly, Tall
[igenomix.es]
Habitus X,XR,G 100 – MEGF8 Carpenter Syndrome AR 98.97 22 of 22 MIR140 Spondyloepiphyseal Dysplasia AD – – MPLKIP Nonphotosensitive Trichothiodystrophy AR 100 13 of 13 MSX2
[igenomix.es]
Stature, And Hearing Loss Syndrome, Hypochondroplasia, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia, Isolated Brachycephaly, Isolated Plagiocephaly
[igenomix.es]
Familial Scaphocephaly Syndrome, Fgfr2-Related Bent Bone Dysplasia AD 98 140 of 143 FGFR3 Achondroplasia With Developmental Delay And Acanthosis Nigricans, Camptodactyly, Tall
[igenomix.es]
Habitus X,XR,G 100 – MEGF8 Carpenter Syndrome AR 98.97 22 of 22 MIR140 Spondyloepiphyseal Dysplasia AD – – MPLKIP Nonphotosensitive Trichothiodystrophy AR 100 13 of 13 MSX2
[igenomix.es]
Stature, And Hearing Loss Syndrome, Hypochondroplasia, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia, Isolated Brachycephaly, Isolated Plagiocephaly
[igenomix.es]
Arachnodactyly-intellectual disability-dysmorphism syndrome, is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic
[dovemed.com]
habitus with arachnodactyly, and moderate to severe intellectual disability.
[orpha.net]
At a glance This is a medical condition characterized by moderate intellectual deficit, brachycephaly, microstomia, very thin lips, ectomorphic (Marfanoid) habitus accompanied
[accesspediatrics.mhmedical.com]
Lujan (Lujan-Fryns) syndrome is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental
[portal.sahmriresearch.org]
Fryns JP: X-linked mental retardation with marfanoid habitus. Am J Med Genet. 1991, 38: 233-10.1002/ajmg.1320380212. CrossRef PubMed 8.
[springermedizin.de]
An X-linked recessive mental retardation syndrome (OMIM:309520) characterised by tall stature, hypernasal voice, hyperextensible digits and high nasal root.
[medical-dictionary.thefreedictionary.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]
stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).
[findzebra.com]
stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). [1] This disease
[dictionnaire.sensagent.leparisien.fr]
Familial Scaphocephaly Syndrome, Fgfr2-Related Bent Bone Dysplasia AD 98 140 of 143 FGFR3 Achondroplasia With Developmental Delay And Acanthosis Nigricans, Camptodactyly, Tall
[igenomix.es]
Habitus X,XR,G 100 – MEGF8 Carpenter Syndrome AR 98.97 22 of 22 MIR140 Spondyloepiphyseal Dysplasia AD – – MPLKIP Nonphotosensitive Trichothiodystrophy AR 100 13 of 13 MSX2
[igenomix.es]
Stature, And Hearing Loss Syndrome, Hypochondroplasia, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia, Isolated Brachycephaly, Isolated Plagiocephaly
[igenomix.es]
stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN,
[genda.com.ar]
Dysplasia Spectrum, Nonsyndromic Trigonocephaly AD 100% 279 of 280 FGFR3 Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans, Bladder Cancer, Camptodactyly-Tall
[igenomix.es]
habitus, Ohdo syndrome, Opitz-Kaveggia syndrome MEF2C Mental retardation MID1 Opitz GBBB syndrome MITF Melanoma, cutaneous malignant, Renal cell carcinoma with or without
[genda.com.ar]
MFS is associated with disorders of the cardiovascular system (e.g., mitral valve prolapse, aortic aneurysm, and dissection), the musculoskeletal system (e.g., tall stature
[amboss.com]
Marfanoid habitus is absent.
[rheumatologyadvisor.com]
Certain athletes, including basketball and volleyball players, may be suspected based on their tall stature.
[acc.org]
Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies HP:0000098 Tall stature HP:0003516 A height above that which is expected according to age and
[genecards.org]
habitus, intellectual disability and psychosis with mood disorder.
[ncbi.nlm.nih.gov]
stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN,
[genda.com.ar]
Familial Scaphocephaly Syndrome, Fgfr2-Related Bent Bone Dysplasia AD 98 140 of 143 FGFR3 Achondroplasia With Developmental Delay And Acanthosis Nigricans, Camptodactyly, Tall
[igenomix.es]
Habitus X,XR,G 100 – MEGF8 Carpenter Syndrome AR 98.97 22 of 22 MIR140 Spondyloepiphyseal Dysplasia AD – – MPLKIP Nonphotosensitive Trichothiodystrophy AR 100 13 of 13 MSX2
[igenomix.es]
Stature, And Hearing Loss Syndrome, Hypochondroplasia, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia, Isolated Brachycephaly, Isolated Plagiocephaly
[igenomix.es]
It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens.
[icd10data.com]
These features, along with thickened lips and eyelids are associated with Marfanoid habitus (the features of Marfan's syndrome). The nasal bridge may be broadened.
[patient.info]
Symptoms - Marfan Syndrome type 2 * Tall stature * Hollow chest * Pigeon chest * Long arms * Scoliosis Causes - Marfan Syndrome type 2 Marfan syndrome is inherited as an autosomal
[checkorphan.org]
stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional
[mendelian.co]
Part A 127a(3): 310-312, 2004 X linked mental retardation and marfanoid habitus. Journal de Genetique Humaine 36(1-2): 123-128, 1988
[eurekamag.com]
tall stature, scoliosis, and hearing loss (CATSHL).
[mendelian.co]
marfanoid stature, distinct facial dysmorphism and behavioral problems.
[findexpertmd.com]
The gain of 1 or 2 additional copies of SHOX due to structural aberrations of the X chromosome can be associated with tall stature.
[elsevier.es]
habitus, with marfanoid habitus X-linked Mental retardation, X-Linked Intellectual Deficit with Marfanoid Habitus, X-Linked Mental Retardation with Marfanoid Habitus, XLMR
[findexpertmd.com]
stature Megalencephaly Protruding ear Neurological speech impairment Pes planus Kyphosis Acrania Congenital onset Stereotypy Slender build Communicating hydrocephalus Dental
[mendelian.co]
habitus Growth Weight: decreased body mass index
[malacards.org]
habitus syndrome 4 Cases 672 Pallister-Hall syndrome 100 Cases 140966 Palmoplantar keratoderma, Nagashima type 20 Cases 2202 Palmoplantar keratoderma- deafness syndrome 10
[azkurs.org]
stature-scoliosis-hearing loss syndrome CANOMAD Syndrome Cantalamessa Baldini Ambrosi Syndrome Cantu Sanchez-Corona Fragoso Syndrome Capgras syndrome capillary leak syndrome
[rgd.mcw.edu]
habitus and intellectual disability. 61 Chevarin M...Faivre L 32277047 2020 16 Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy. 61 Hausman-Kedem M...
[malacards.org]
Syndrome CAMFAK Syndrome Camptodactyly Syndrome Guadalajara Type + camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-Ichthyosis Syndrome camptodactyly-tall
[rgd.mcw.edu]