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447 Possible Causes for Broad Thumb, Hirsutism

  • Rubinstein-Taybi Syndrome

    Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes,[] Rubinstein-Taybi syndrome is a rare genodermatosis with characteristic features that include downward sloping palphebral fissures, broad thumbs and halluces, and mental retardation[] A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[]

  • HAIR-AN Syndrome

    The most common cause of hirsutism is polycystic ovarian syndrome. Patients with "idiopathic" hirsutism have normal ovulatory cycles and androgen levels.[] Med. org] Daumen und Zehen In 1963, Rubinstein and Taybi first described a malformation syndrome characterized by distinctive facies, mental retardation, broad thumbs, and[] The most common cause of hirsutism is polycystic ovarian syndrome. Patients with “idiopathic” hirsutism have normal ovulatory cycles and androgen levels.[]

  • Hypertelorism

    Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit.[] […] hypertelorism , down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads [19] .[] Clinical description Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum[]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] […] hands with fat thumbs, short limbs, and a tendency to semiflexion of the fingers.[] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.[] Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome Brody myopathy Brown-Vialetto-Van Laere syndrome see riboflavin transporter deficiency neuronopathy BRRS see Bannayan-Riley-Ruvalcaba[] Coarse face and body hirsutism are additional features. Source: Online Mendelian Inheritance in Man[]

  • Fetal Hydantoin Syndrome

    […] malformations due to hydantoin intake during pregnancy include digit and nail hypoplasia, growth retardation, typical facial appearance, rib anomalies, abnormal palmar creases, hirsutism[] Unusually broad nails of normal length are found over digits with duplication of the distal phalanx.[] He was noted to have a depressed nasal bridge, coarse scalp hair, hirsutism, nail hypoplasia, and hypoplasia of the fifth digits bilaterally.[]

  • Hypertrichotic Osteochondrodysplasia

    Hirsutism of the lower back (B) and forearms(C) Figure 3 All images are from a woman age 40 years.[] thumbs and toes 6 families Gingival fibromatosis - progressive deafness140917 6 families 2027 Growth deficiency - brachydactyly - dysmorphism 2 families 2055 2 families26[] In the condition known under the designation hypertrichotic osteochondrodysplasia (Cantu syndrome, OMIM 239850), the phenotypic spectrum includes early-onset hypertrichosis[]

  • Trisomy 8q

    […] and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis[] thumbs and toes, and tracheoesophageal fistula.[] No hirsutism or acne was noted. No thyromegaly, no organomegaly, and no cardiac murmurs were noted. She was nonverbal, however was co-operative with the examination.[]

  • Weaver Syndrome

    Additional features include hirsutism and an umbilical hernia. Hearing loss can sometimes occur.[] […] foot Broad feet Wide foot [ more ] 0001769 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Camptodactyly of finger Permanent flexion of the finger 0100490 Deep[] Physical characteristics of Marshall-Smith Syndrome include excessive hair growth (hypertrichosis), a long head with a prominent forehead, prominent eyes, and/or an upturned[]

  • Spondyloepiphyseal Dysplasia

    Thumbs appeared short with broad. X-ray imaging at 35 years revealed a high palate and short neck ( Figure 1A ).[] thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome NOTCH1 Aortic valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney[] Progression of knee epiphyseal changes, osteopenia, short and broad thumbs ( Figure 1 ) and a lordotic gait were also present at this time.[]

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