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20 Possible Causes for Acrocephalosyndactyly, Arthralgia, Elbow Dimples

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    She was noted to have short, broad hands and feet with deep palmar creases, short toes, and dimples in the elbows and knees.[jmg.bmj.com] syndrome (Acrocephalosyndactyly, type I; ACS1) (ACS I) (Apert-Crouzon syndrome, included) (Acrocephalosyndactyly, type II, included) (ACS II, included) (Vogt cephalodactyly[becomerich.lab.u-ryukyu.ac.jp] […] defects-cleft lip/palate syndrome Ankylosing vertebral hyperostosis with tylosis Antley-Bixler syndrome Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Apert[se-atlas.de]

  • Baraitser Syndrome

    ), small kidneys dilatation of the renal calyces, sacral dimple, and short and thick limbs.[bredagenetics.com] syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects NKX2-5 Atrioventricular[centogene.com] […] palpebral fissures, ptosis, low-set ears, epicanthal folds, high-arched palate, and mild clinodactyly), alternating convergent squint, short stature, hypertrichosis cubiti (elbow[bredagenetics.com]

  • Generalized Amyoplasia

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] syndrome Q87.0 Aphagia R13.0 Aphakia (acquired) (postoperative) H27.0- Aphasia (amnestic) (global) (nominal) (semantic) (syntactic) R47.01 Aphonia (organic) R49.1 Aphthae[icd.codes] […] otitis media Malar flattening Abnormality of the skeletal system Corneal dystrophy Cervical cord compression Hypertrophic cardiomyopathy Weight loss Camptodactyly of finger Arthralgia[mendelian.co]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    […] and knees) aberrant skin dimples (elbows and knees) Skeletal Spine: prominent sacrum[malacards.org] Aniridia Aniridia Cerebellar Ataxia Mental Deficiency Anodontia Anthrax Antiphospholipid Syndrome Antisynthetase Syndrome Antithrombin Deficiency Antley Bixler Syndrome Apert[rarediseases.annualcongress.com] Head And Neck Ears: hearing loss preauricular tags cup-shaped ears overfolded helices cleft lobules Skeletal: delayed bone age Skin Nails Hair Skin: scalp defect pterygium (elbows[malacards.org]

  • Pelvic Dysplasia-Arthrogryposis of Lower Limbs Syndrome

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] Achondroplasia • Acromesomelic dysplasia • Addison disease • Adducted thumb syndrome • Amyloidosis • Amyoplasia congenita disruptive sequence • Antley-Bixler syndrome • Apert[rrnursingschool.biz] Loss of cutaneous creases with joint dimpling. Operative reduction of dislocated hips is controversial. Femoral shortening facilitates treatment of flexion contracture.[musculoskeletalkey.com]

  • Isolated Congenital Alacrima

    […] extension Short thorax Squamous cell carcinoma Tibial bowing Anal stenosis Metaphyseal widening Metaphyseal dysplasia Genu varum Sacral dimple Bowing of the long bones Neoplasm[mendelian.co] syndrome [24] Apert syndrome - Dental anomalies [24] Apert syndrome - Imaging [11] Apert-Crouzon disease ( Apert syndrome [24] ) Aphakia, congenital primary [7] Aphalangia[radiomed.ru] […] regression Arthritis Osteomyelitis Acne Cerebral palsy Abnormality of the fingernails Osteolysis Bone pain Gynecomastia Limitation of joint mobility Palmoplantar keratoderma Arthralgia[mendelian.co]

  • Arthrogryposis Syndrome

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] […] akinesia sequence, Arthrogryposis multiplex congentia with pulmonary hypoplasia Pfeiffer Syndrom ( 1 Files ) Erkrankung: Pfeiffer Syndrom ICD 10 : Q87.0 Synonyme : ACS5, Acrocephalosyndactyly[orphananesthesia.eu] Zika virus disease is defined as having at least one of the following signs or symptoms: acute onset of fever, rash, arthralgia, conjunctivitis and laboratory confirmation[acog.org]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    , sex reversal, cleft palate Redundant skin folds on extremities, elbow extension limitation, trident hand, genu vargum Narrow interpediculate distance, squared iliac wings[quizlet.com] Home Pfeiffer Syndrome Pfeiffer Syndrome, Apert Syndrome, Saethre Chotzen Syndrome, Chotzen Syndrome, Acrocephalosyndactylia, Noack Syndrome, Noack Syndromes, Apert Crouzon[xpertdox.com] It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain[ncbi.nlm.nih.gov]

  • Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome

    Dimples over elbows and knees have been observed in prune belly syndrome, Joubert syndrome and facial clefting syndrome.[plasticsurgerykey.com] Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.[radiopaedia.org] Arthritis or arthralgia is usually seen in the prodromal phase of the viral infection, though it can become chronic in some cases.[idoj.in]

  • Spondyloepiphyseal Dysplasia Type Reardon

    Their condi- tion comprises mesomelic limb shortness and bowing with skin dimpling, cleft palate, retrognathia, camp- todactyly, and limitation of elbow joint movement.[dev.docslide.net] syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke[ipfs.io] Muscle weakness Abnormality of movement Hepatosplenomegaly Severe short stature EEG abnormality Frontal bossing Skeletal muscle atrophy Abnormal form of the vertebral bodies Arthralgia[mendelian.co]

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