Possible Causes for short extremities 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] Pseudohypoparathyroidism The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000. [en.wikipedia.org] prevention and management of obesity and short stature, management of ossifications and accurate genetic and prenatal counselling. [doi.org] Types include: Type 1a (OMIM 103580) Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a [en.wikipedia.org] Osteogenesis Imperfecta 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] Trisomy 21 Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%). [journals.lww.com] […] neck and generous nuchal skin General physical features in patients with Down syndrome may include the following: Shortened extremities Short, broad hands, with short fifth [emedicine.com] Growth retardation was noted in only three patients, with only one of them exhibiting extreme short stature, defined as height below the 5th percentile based on normative [journals.lww.com] Shwachman Syndrome Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. [ncbi.nlm.nih.gov] Plain film Skeletal features: shortened extremities cup deformity of ribs Ultrasound Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation [radiopaedia.org] Patient characteristics Growth failure resulted in an extremely short stature in some patients, but was never disproportionate of nature. [bloodjournal.org] Thalassemia Hemoglobin. 2016;40(2):127-9. doi: 10.3109/03630269.2015.1136935. Epub 2016 Feb 6. Abstract A female proband homozygous for both Hb Luton [α89(FG1)His Leu (CAC CTC), HBA2: c.269A T (or HBA1)], a high oxygen affinity hemoglobin (Hb), and for α( )-thalassemia (α-thal), (-α(4.2), leftward deletion) was first described in[…] [ncbi.nlm.nih.gov] Pseudoachondroplasia 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] Height is normal at birth but then goes into the less than fifth percentile by age 2 Short extremities Misalignment of the lower extremities with bowing on one side and knock [hopkinsmedicine.org] Hypochondroplasia Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar [ncbi.nlm.nih.gov] RESULTS: The proband and his mother all presented disproportionate short stature, short, stubby extremities, unchanged interpedicular distances from L1-L5, and short iliac [ncbi.nlm.nih.gov] Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar [ncbi.nlm.nih.gov] Achondroplasia […] 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] Achondroplasia is a disorder of bone formation, primarily affecting the long bones of the extremities and the base of the skull, resulting in characteristic features of short [medlink.com] Mucopolysaccharidosis Type 1 Walker et al in their review article on MPS have stated that the LMA was found to be extremely useful both to provide a secure airway for short procedures and also to clear [ijaweb.org] Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX. [neurology.testcatalog.org] Standard reference equations based on data from normal individuals may not apply to MPS patients with systemic skeletal dysplasia and extremely short stature. [link.springer.com] Mucopolysaccharidosis Type 1 H The neck may be short and stiff, and facial appearance unremarkable. [mps1disease.com] […] foreheads, and large heads, which tend to be longer than normal from front to back (scaphocephalism).[3] The appearance of mildly affected individuals with attenuated MPS I is extremely [mps1disease.com] Smith Lemli Opitz Syndrome Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith-Lemli-Opitz syndrome presenting with acute adrenal[…] [ncbi.nlm.nih.gov] Cartilage Hair Hypoplasia Before birth Possibly via prenatal ultrasound due to short extremities Genetic sampling if expected After birth X-ray findings Observation of common physical characteristics [littlepeopleuk.org] short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. [ncbi.nlm.nih.gov] Severely uncapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as essential cell growth regulator. [analesdepediatria.org] Rickets Clinical characteristics included: delays of sitting, walking, and teething; bone and chest deformities; widened wrists and ankles; and bowed lower extremities. [ncbi.nlm.nih.gov] Clinical description During childhood, the disease manifests with short stature, rickets affecting primarily lower extremity deformities. [orpha.net] The lower extremities are bowed, and treatment of severe bowing requires valgus osteotomies. The phalanges are short, broad, and cupped. [doi.org] Dermatosparaxis puffy eyelids, micrognathia, umbilical hernia, and short fingers. [ncbi.nlm.nih.gov] and short fingers. [uniprot.org] Symptoms: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Short fingers and stature Characteristic facial [thesun.co.uk] Metaphyseal Chondrodysplasia Type Schmid Bowing of the extremities, mild short stature and a waddling gait are evident at a young age. [ctgt.net] leg pains, bowed legs, increased lordosis, and waddling gait; - upper extremity: - mild wrist swelling; - flexion contractures of the elbows ; - lower extremities - more [wheelessonline.com] Kniest dysplasia Kniest dysplasia is characterized by extreme short stature, prominent joints, especially in knee, and mid‐face hypoplasia. [intechopen.com] Achondrogenesis Type 2 short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities. [emedicine.medscape.com] External morphology revealed a relatively large head, short upper and lower extremities, short neck, and distended abdomen. [jpatholtm.org] short Thorax – Short and flared thorax, bell-shaped cage, lung hypoplasia Abdomen – Protuberant Limbs – Extremely short (micromelia) Causes Type IA is an autosomal recessive [odlarmed.com] Achondrogenesis Type 1B Diastrophic dysplasia is a more mild form characterized by short stature (very short extremities), protruding abdomens, and narrow chests. [nxgenmdx.com] It is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward. [dict.eudic.net] Achondrogenesis, type 1B is a severe autosomal recessive skeletal disorder, invariably fatal in the perinatal period. [1] It is characterized by extremely short limbs, a narrow [en.wikipedia.org] Achondrogenesis short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities. [emedicine.medscape.com] short Thorax – Short and flared thorax, bell-shaped cage, lung hypoplasia Abdomen – Protuberant Limbs – Extremely short (micromelia) Causes Type IA is an autosomal recessive [odlarmed.com] Ultrasonography showed extreme micromelia, short neck and trunk, large head and prominent abdomen. [apjr.net] Common Cold Some trials found a significant reduction in the risk of common cold in participants exposed to short periods of extreme physical or cold stress (such as marathon running [myvmc.com] […] difficulty swallowing Excessive loss of appetite Wheezing Shortness of breath Additional reporting by Allison Young [prevention.com] In five trials with participants exposed to short periods of extreme physical stress (including marathon runners and skiers) vitamin C halved the common cold risk. [doi.org] Urinary Tract Disease […] of breath ( dyspnea ) Profuse sweating Sudden extreme anxiety Severe back, abdominal, or pelvic pain Dementia-like symptoms triggered by the development of brain inflammation [verywellhealth.com] […] this dangerous complication include: An abnormally rapid heart rate ( tachycardia ) High fever or hypothermia (body temperatures below 95 degrees) Difficulty breathing or shortness [verywellhealth.com] Vitamin D Deficiency Rickets can be distinguished from chondrodystrophy because the latter is characterized by a large head, short extremities, thick bones, and normal serum calcium, phosphate [merckmanuals.com] Bronchitis Symptoms include cough, shortness of breath, wheezing, chest pains and fatigue. Regular exercise, including jogging, is extremely beneficial for relieving symptoms. [livestrong.com] Acute Bronchitis You have shortness of breath. 2 Take a cough suppressant only if your doctor prescribes one. [wikihow.com] If you have a dry cough and your cough keeps you from sleeping at night, or causes extreme pain, your doctor may prescribe or recommend an over-the-counter cough suppressant [wikihow.com] Upper Respiratory Infection […] of breath Ear pain Extreme fussiness Recovery from common cold Most colds last 3-10 days. [mercy.com] Overall, upper respiratory tract infections lead to very high disability for short periods. [ncbi.nlm.nih.gov] In five trials with 598 participants exposed to short periods of extreme physical stress (including marathon runners and skiers) vitamin C halved the common cold risk. [doi.org] Viral Upper Respiratory Tract Infection Overall, upper respiratory tract infections lead to very high disability for short periods. [ncbi.nlm.nih.gov] Absenteeism from work and schools is common; in addition, the symptoms can be annoying and extreme fatigue is the norm. [ncbi.nlm.nih.gov] Vulvitis Avoid wearing extremely tight-fitting pants or shorts, which may cause irritation by constantly rubbing against the skin and by holding in heat and restricting air circulation [ayurvedatreatments.co.in] The short answer is that they are both extremely beneficial. And of course, both are so much better than no exercise at all. [eastcoastphysio.ie] Urinary Tract Infection […] of breath ( dyspnea ) Profuse sweating Sudden extreme anxiety Severe back, abdominal, or pelvic pain Dementia-like symptoms triggered by the development of brain inflammation [verywell.com] […] this dangerous complication include: An abnormally rapid heart rate ( tachycardia ) High fever or hypothermia (body temperatures below 95 degrees) Difficulty breathing or shortness [verywell.com] Acute Alcohol Intoxication While prompt medical treatment can help someone who is extremely intoxicated from alcohol, that is only a short-term solution. [casapalmera.com] The individual may become extremely disoriented, unresponsive or unconscious, with shallow breathing. [answers.yahoo.com] Alcohol poisoning: A condition in which a toxic amount of alcohol (ethanol, ethyl alcohol) has been drunk, usually in a short period of time. [answers.yahoo.com] Vitamin B12 Deficiency Related: 5 Ways to Sneak More Fiber Into Your Diet In fact, a B12 deficiency can go undiagnosed for years, despite causing difficult symptoms like extreme fatigue, shortness [womenshealthmag.com] Several seemingly unrelated symptoms, however, such as poor memory, shortness of breath, loss of taste and smell, depression and tingling in your extremities, may be an indication [articles.mercola.com] […] of breath, depression, yellow skin, a smooth tongue and tingling in your extremities Vitamin B12 is essential, meaning it must come from food or supplementation Vitamin B12 [articles.mercola.com]
