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459 Possible Causes for Round Face, Short Extremities

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000.[en.wikipedia.org] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com]

  • Mucopolysaccharidosis

    It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com] Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX.[neurology.testcatalog.org] Dysplasia (abnormal bone size and/or shape) and other skeletal irregularities Short and often claw-like hands, Progressive joint stiffness, and carpal tunnel syndrome can[wikidoc.org] MPS VII is extremely rare, affecting approximately 1 in 1,500,000 individuals. MPS IX is a very rare disorder caused by a deficiency of the enzyme hyaluronidase.[neurology.testcatalog.org]

  • Osteogenesis Imperfecta

    faces cases of OI type VIII are similar to OI types II or III in appearance and symptoms except for white sclerae Additional forms of OI The following conditions are rare[radiopaedia.org] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov] It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures.[patient.info]

  • Aarskog Syndrome

    Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes[ncbi.nlm.nih.gov] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov] […] the face, distal extremities, and external genitalia (faciodigitogenital syndrome).[ncbi.nlm.nih.gov]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • Kniest Dysplasia

    Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).[monarchinitiative.org] Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.[ncbi.nlm.nih.gov] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]

  • Pseudoachondroplasia

    The face has characteristic features: it is very round and the nasal bridge (between the eyes) is flattened.[aqppt.org] He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov] Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized[abstracts.eurospe.org]

  • Achondroplasia

    face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com] The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the[medicinenet.com]

  • Mucopolysaccharidosis 2

    The skin may also show hypertrichosis and excessive Mongolian spots. [ 6 ] Other features Macrocephaly - common with a short trunk length compared to the extremities.[patient.info] Musculoskeletal findings include dysostosis multiplex and thoracolumbar kyphosis, and the trunk appears short in length when compared to the length of the extremities.[emedicine.medscape.com] Short stature - develops gradually after the age of 3. Airways obstruction - from accumulation of heparan and dermatan sulfate in the trachea.[patient.info]

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