Possible Causes for Dysmorphic Face Alacrima - Achalasia - Mental Retardation faces, intellectual disability, and a bone dysplasia of unknown etiology. 61 Stinson JL...Weaver DD 32426895 2020 25 De novo mutations of TUBB2A cause infantile-onset epilepsy [malacards.org] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation [rgd.mcw.edu] […] functioning and behavior in Dravet syndrome: A systematic review. 61 Jansson JS...Reilly C 32334365 2020 24 An apparent new syndrome of extreme short stature, microcephaly, dysmorphic [malacards.org] Holoprosencephaly - Recurrent Infections - Monocytosis Hands: brachydactyly tapering fingers Immunology: recurrent infections monocytosis abnormally large monocytes with vacuoles monocytes show impaired motility Head And Neck Face [malacards.org] sloping forehead dysmorphic facies Skin Nails Hair Skin: recurrent skin infections Head And Neck Ears: abnormal pinnae narrow ear lobes Head And Neck Head: microcephaly [malacards.org] Lichtenstein Syndrome Precautions before anesthesia Because of the dysmorphism affecting the lower part of the face, complete evaluation of the airway must be performed. [accesspediatrics.mhmedical.com] Because of the dysmorphism affecting the lower part of the face, complete evaluation of the airway must be performed. [accessanesthesiology.mhmedical.com] Lethal Multiple Pterygium Syndrome At birth, variable joint contractures multiple pterygia facial dysmorphism with long face, high-arched palate, small mouth, and retrognathism. 12. [slideshare.net] - Adducted thumbs, ulnar deviation of metacarpophalangeal (MP) joints, normal facies Type IIA (Freeman-Sheldon syndrome, whistling face syndrome, craniocarpal tarsal dystrophy [emedicine.medscape.com] […] joints and include the following types and subtypes (all have autosomal dominant inheritance with reduced penetrance and variable expressivity) [14] : Type I (Distotarlar dysmorphism [emedicine.medscape.com] Renpenning Syndrome Case Presentation: In this case report, we presented an 11-year-old male with mild developmental delay and mild intellectual disability, microcephaly, dysmorphic face, short [sid.ir] faces. [flybase.org] Renpenning syndrome 1 (RENS1) is an X-linked mental retardation syndrome with clinically recognizable features, including microcephaly, short stature, small testes, and dysmorphic [flybase.org] King Syndrome face. [idocslide.com] face, and scoliosis. [scielo.br] face, ptosis, downslanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian [zdoc.site] 3q29 Microdeletion […] facial features long and narrow face short philtrum high nasal bridge autism gait ataxia chest-wall deformity long and tapering fingers microcephaly cleft lip and palate [humpath.com] The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly [orpha.net] […] with a relatively long face, long nose with a high bridge and broad tip, short philtrum and large ears. [ncbi.nlm.nih.gov] Mucopolysaccharidosis-plus Syndrome Desarrollado de la mano de expertos clínicos del mundo de la reproducción y de la genética. Porque lo que realmente nos importa es contribuir a que tengamos niños sanos nuestro test qCarrier Plus minimiza al máximo el riesgo residual de cada uno de los más de 300 genes estudiados. Ver lista de genes Un test de[…] [qgenomics.com] Metopic Ridging - Ptosis - Facial Dysmorphism […] like macrocephaly, coarse face, thick eyebrows, epicantal folds, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, full lips, [glosbe.com] […] main features of Cantú syndrome are hypertrichosis with scalp hair extended onto the forehead and general increase in body hair, osteochondrodysplasia, cardiomegaly and dysmorphisms [glosbe.com] Spondyloepiphyseal Dysplasia Type Kondo-Fu Some common manifestations are delayed growth, short stature, curvature of the spine, dysmorphic face, early onset of cataracts, bilateral inguinal hernia and gastrointestinal [rarediseases.org] Delayed growth and gross motor milestones are noticeable soon after birth, and deformity of spine and face progress through childhood. [rarediseases.org] Patients exhibit short stature with curvature of the spine, bulging of chest (pectus carinatum) and characteristic dysmorphic facial features including prominent forehead, [rarediseases.org] Brachydactyly - Anonychia Malformation Pathologie de la main Pathologie de la peau Pathologie des ongles Pathologie du système ostéoarticulaire Keyword (en) Anonychia Brachydactyly Surgery Finger Dysmorphism [pascal-francis.inist.fr] Anonychia Brachydactyly Cooks syndrome Facial dysmorphology Nasal deformation Keyword (fr) Anonychie Brachydactylie Chirurgie Doigt Dysmorphie Déformation Enfant Etude cas Face [pascal-francis.inist.fr] Deformation Child Case study Face Upper limb Nasopharynx Nose Treatment Human Malformation Disease of the hand Skin disease Nail disease Diseases of the osteoarticular system [pascal-francis.inist.fr] Zerres Rietschel Majewski Syndrome Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome? [jmg.bmj.com] Synonyms Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation Overview No overview is available at this time [rarediseases.org] face, and mental retardation See more Don’t fight Zerres Rietschel Majewski syndrome alone. [rareguru.com] Skeletal Defects, Genital Hypoplasia, and Mental Retardation DISEASE: Skeletal defects, genital hypoplasia, and mental retardation エントリ H00969 名称 Skeletal defects, genital hypoplasia, and mental retardation 概要 本疾患は、精神遅滞、頭蓋顔面異形症、不均衡な低身長、性器発育不全を伴い、親指の欠損、橈骨や尺骨の発育不全、脊椎や肋骨の異常を含む骨格形成異常が起こる。原因遺伝子 ZBTB16 は急性前骨髄球性白血病において、レチノイン酸レセプターα の融合遺伝子パートナーのうちの一つである。 カテゴリ 先天奇形 階層分類 ヒト疾患[…] [genome.jp] Pontocerebellar Hypoplasia Type 2A Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protruding maxilla [en.wikipedia.org] Partial Trisomy 18q The infant showed many of the main clinical features of trisomy 18, such as dysmorphic face, congenital heart defect, crossing of the second and fifth fingers over the third [analesdepediatria.org] Partial Monosomy 5p Craniofacial dysmorphism includes microcephaly, round face, broad nasal bridge, hypertelorism, epicanthic folds, strabismus, downward-slanting palpebral fissures, low-set [orpha.net] Trisomy 19p […] asymmetric and dysmorphic ears. [karger.com] Abstract We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent forehead, downward [pubmed.ncbi.nlm.nih.gov] including round face, high prominent forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set [karger.com] Pontocerebellar Hypoplasia Type 2D Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protruding maxilla [en.wikipedia.org] Ataxia - Photosensitivity - Short Stature […] syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. [orpha.net] Homepage Rare diseases Search Search for a rare disease Ataxia-photosensitivity-short stature syndrome Disease definition A rare, genetic, multiple congenital anomalies/dysmorphic [orpha.net] Dysmorphophobia People with body dysmorphic disorder often focus on: Face and skin Hair Muscle size and tone Many people worry a little about how they look. [msdmanuals.com] Symptoms and Signs of Body Dysmorphic Disorder Symptoms of body dysmorphic disorder may develop gradually or abruptly. [msdmanuals.com] Doctors diagnose you with body dysmorphic disorder only if your worries about your appearance: Make you very upset Take up a lot of time Cause problems in your daily life [msdmanuals.com] 14q32 Duplication Syndrome She showed a dysmorphic face, including frontal bossing, widely spaced teeth, broad upper alveolar ridges, broad mouth, downturned corners of the mouth, broad nasal root, [proquest.com] face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay Articolo in rivista Go to 2005 Diabete insipido centrale da idrocefalo congenito [unipa.it] (Lower panel) A dysmorphic face characterized by frontal bossing, widely spaced teeth, broad upper alveolar ridges, broad mouth, downturned corners of the mouth, broad nasal [proquest.com] Chromosome 16q Duplication Physical examination revealed the presence of mild dysmorphic features including high forehead, round face, epicanthic folds, and low-set ears with poor folding of the helix [ncbi.nlm.nih.gov] Dysmorphic features associated with proximal dup16q include round face, flattened nasal bridge, dysplastic and low set ears, long philtrum, thin upper lip, relative micro/ [ncbi.nlm.nih.gov] She had moderate mental retardation, severe speech delay, obesity, and dysmorphic facial features, including round face, sparse eyebrows, long philtrum, and thin upper lip [ncbi.nlm.nih.gov] Progressive Familial Intrahepatic Cholestasis Type 3 On examination, he had no face dysmorphism. He was icteric. Urine and stools had normal colors. He had hepatomegaly (8 cm) which was firm. He had also a splenomegaly. [latunisiemedicale.com] Maroteaux-Stanescu-Cousin Syndrome Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies [rarediseases.oscar.ncsu.edu] It is associated with characteristic dysmorphic features including a flat round face, prominent eyes, flat nasal bridge, midface hypoplasia, short nose, microstomia, high-arched [karger.com] The facial dysmorphism seems less obvious in adults. [jmg.bmj.com] Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome Nine patients showed dysmorphic face or developmental delay and three patients had family history of short stature and brittle teeth. [pediatrics.or.kr] […] with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual [rbcc.hegelab.org] Swiss-Prot : 76 Short stature, optic nerve atrophy, and Pelger-Huet anomaly: An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism [malacards.org] 17q11 Microdeletion Syndrome Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies [rarediseases.oscar.ncsu.edu] Patients with deletions (1.4-1.65 Mb) may also have microcephaly, epilepsy, ataxic gait, severe dysmorphic features of the face and ID. [scielo.br] Dysmorphic features such as facial dysmorphia, coarse face, facial asymmetry and large hands and feet are characteristic hallmarks of NF1 microdeletions. [frontiersin.org] GRIN1-Related Neurodevelopmental Disorder Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome [igenomix.es] Syndrome AD 99.91 43 of 46 MFSD8 Neuronal Ceroid Lipofuscinosis, Macular Dystrophy With Central Cone Involvement AR 100 63 of 63 NALCN Congenital Contractures Of The Limbs And Face [igenomix.es] 6q25 Microdeletion Syndrome Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies [rarediseases.oscar.ncsu.edu] Patients with deletions (1.4-1.65 Mb) may also have microcephaly, epilepsy, ataxic gait, severe dysmorphic features of the face and ID. [scielo.br] Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components. [rarediseases.oscar.ncsu.edu] PURA-Related Neurodevelopmental Disorder Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome [igenomix.es] Syndrome AD 99.91 43 of 46 MFSD8 Neuronal Ceroid Lipofuscinosis, Macular Dystrophy With Central Cone Involvement AR 100 63 of 63 NALCN Congenital Contractures Of The Limbs And Face [igenomix.es] Chromosome 12q Deletion The first one with a 4.4 Mb deletion in 12q14.2q15 had short stature, mild developmental delay, café-au-lait spot and a slightly dysmorphic face. [chromodisorder.org] They also share dysmorphic features such as a coarse face with prominent forehead, broad nose, and down-slanting palpebral fissures (Table 2). [karger.com] […] features including a relative macrocephaly at birth and a triangular face with prominent forehead. [frontiersin.org]
