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Facioauriculoradial Dysplasia
2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs[mousephenotype.org]
Madelung deformity Abnormality of the carpal bones Multiple exostoses Mesomelic short stature Long fibula Shortening of the tibia Abnormal metatarsal morphology Increased[mendelian.co]
Lateral clavicle hook ; Long clavicles ; Long philtrum ; Malar flattening ; Mesomelic arm shortening ; Microtia ; Midface retrusion ; Phocomelia ; Radioulnar synostosis ; Short[mousephenotype.org]
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Grebe Syndrome
[…] digit 0011927 Short femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short phalanx of finger Short finger bones[rarediseases.info.nih.gov]
0001371 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Hypoplasia of the ulna Underdeveloped inner large forearm bone 0003022 Pes valgus 0008081 Short[rarediseases.info.nih.gov]
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Rhizomelic Dysplasia - Scoliosis - Retinitis Pigmentosa
[…] neck of thighbone 0100864 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short neck Decreased length of neck 0000470 Short ribs 0000773 Strabismus[rarediseases.info.nih.gov]
[…] upper portion of limb 0008905 Rod-cone dystrophy 0000510 Scoliosis Abnormal curving of the spine 0002650 Short clavicles Short collarbone 0000894 Short femoral neck Short[rarediseases.info.nih.gov]
[…] light Light hypersensitivity [ more ] 0000613 Prominent deltoid tuberosities 0003890 Reduced visual acuity Decreased clarity of vision 0007663 Rhizomelia Disproportionately short[rarediseases.info.nih.gov]
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Rhizomelic Chondrodysplasia Punctata Type 2
The baby had short humerus bones with stippled epiphyses, consistent with the disease.[file.scirp.org]
humerus ; Stippled calcification proximal humeral epiphyses ; Wide nasal bridge Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT ) Mouse Orthologs Gnpat ([mousephenotype.org]
The baby had short humerus bones with stippled epiphy-ses, consistent with the disease.[scirp.org]
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Wiedemann-Rautenstrauch Syndrome
[…] femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712[rarediseases.info.nih.gov]
Prolactin excess 0000870 Recurrent otitis media Recurrent middle ear infection 0000403 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Short[rarediseases.info.nih.gov]
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Ulnar Mammary Syndrome
[…] scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis[datagenno.com]
Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus[datagenno.com]
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Omodysplasia Type 1
humerus Commonly - More than 50% cases Fibular hypoplasia Not very common - Between 30% and 50% cases Drusen And 41 more phenotypes.[mendelian.co]
Polydactyly Syndrome Mimics of Skeletal Dysplasias Chronic Intervillous Histiocytosis Focal anomalies upper limb Shortened fetal humerus Aneuopliody syndromic • Down syndrome[slideshare.net]
The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities ( Baxova et al., 1994 ).[mendelian.co]
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Femoral Agenesis - Femoral Hypoplasia
[…] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in[phenotip.com]
[…] limbs upper limb anomalies bilateral short humerus (bilateral humeral hypoplasia) right radial agenesis right cubital agenesis bilateral oligodactyly right 4th-5th finger[humpath.com]
Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular asymmetry Maternal diabetes mellitus Micrognathia/retrognathia Rhizomelia/short[phenotip.com]
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Humerus Trochlea Aplasia
Symptoms via clinical synopsis from OMIM: 57 Limbs: aplasia of trochlea of humerus flexed elbows pronated forearms short humerus webbed antecubital space more Mouth: cleft[malacards.org]
Name Trochlea Of The Humerus, Aplasia Of Synonyms - Classification bone, developmental, genetic Phenotypes Cleft palate ; Short humerus Associated Genes - Mouse Orthologs[mousephenotype.org]
TROCHLEA OF THE HUMERUS, APLASIA OF Limbs - Aplasia of trochlea of humerus [SNOMEDCT: 732928005 ] [UMLS: C1860773 ] - Flexed elbows - Pronated forearms - Short humerus [UMLS[omim.org]
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Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome
humerus, bilateral pleural effusion with pulmonary hypoplasia [Figure 1] c, and bilateral club foot [Figure 1] d.[jfmpc.com]
[…] a 24 weeks fetus in breech presentation, with ascites and subcutaneous edema (suggestive of fetal hydrops) [Figure 1] a, large multi septate cystic hygroma [Figure 1] b, short[jfmpc.com]