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213 Possible Causes for Clubbed Finger, Coarse Facial Features, Hirsutism

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[] Heart Inspection Neck vein- distended/ not distended Clubbing of fingers-yes/no Cyanosis, central, peripheral Edema Palpation Apical pulse Capillary Refill Auscultation Heart[]

  • Mucopolysaccharidosis 2

    On examination, he was short statured, with a big head, protruding abdomen, coarse skin, swollen wrist joints, and clubbed fingers. There was mild mental retardation.[] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[]

  • Launois Syndrome

    We report the first description of a Launois-Bensaude syndrome involving the orbit. Launois-Bensaude syndrome was diagnosed in a 70-year-old-man who presented with severe bilateral proptosis (Hertel value 26mm). We performed a bilateral transpalpebral orbital decompression by resection of intraorbital fat without[…][]

  • Autosomal Recessive Pachydermoperiostosis 

    We report a 19-year-old man presenting with arthritis, broadening of the fingers and clubbing of the fingers and toes for the previous 3 years.[] The disease is characterized by coarse facial features, clubbing of the fingers and radiographic periostitis of the distal long bones.[] He had finger clubbing, hyperhidrosis, and hypertrichosis. He also had a recent history of extensive abdominal surgery with a pathology report of myelolipoma.[]

  • Hypertrichotic Osteochondrodysplasia

    finger バチ状指、バチ指 (代) 【代謝疾患】*metabolic disease (体) 【体静脈狭窄】*systemic vein stenosis (多) 【多飲多食症】*polydipsia 【多汗症】*hyperhidrosis *polyhidrosis *hidrosis *sudoresis 発汗過多症 【多顎症】*[] […] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[] Hirsutism of the lower back (B) and forearms(C) Figure 3 All images are from a woman age 40 years.[]

  • Proud Syndrome

    Characteristics include: A small mouth which looks like the person is whistling A flat face Club feet Contracted muscles of the joints of the fingers and hands Underdeveloped[]

  • Lytic Bone Lesion

    […] acropachy [ ak ro-pak″e ] clubbing of the fingers. he·red·i·tar·y club·bing [MIM*119900] simple hereditary clubbing of the digits without associated pulmonary or other progressive[] facial features Coarse facial appearance 0000280 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Downturned corners of mouth Downturned corners of[] SFPKS was first described in a 5-year-old female with a distinct facial appearance, proportional short stature, hirsutism, polycystic kidneys, vertebral abnormalities, elongated[]

  • Congenital Generalized Hypertrichosis Type Ambras

    […] appendages ( L60–L75, 703–706 ) Nail thickness: Onychogryphosis · Onychauxis color: Beau's lines · Yellow nail syndrome · Leukonychia · Azure Lunula shape: Koilonychia · Nail clubbing[] The dysmorphic facial features include the following: Triangular, coarse face, large intercanthal distance, broad palpebral fissures, long prominent back of the nose, round[] More common causes of hirsutism include polycystic ovary syndrome (PCOS), idiopathic hirsutism, hyperprolactinemia, hyperthecosis, and medications (eg, danazol, androgenic[]

  • Schinzel-Giedion Syndrome

    […] and toes, club foot, scoliosis, and walking difficulties.[] This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding[] Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs.[]

  • Cranio-Osteo-Arthropathy

    Overview A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.[] The skin of the face, forehead and scalp becomes grossly thickened and thrown into folds (coarse facial features, one of the leonine facies).[] […] complex-trismus-pseudocamptodactyly syndrome Carpenter syndrome Carpenter-Waziri syndrome Carpotarsal osteochondromatosis Cartilage-hair hypoplasia Cataract-deafness-hypogonadism syndrome Cataract-hypertrichosis-intellectual[]

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