Create issue ticket

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,[ncbi.nlm.nih.gov] Rubinstein-Taybi syndrome is a rare genodermatosis with characteristic features that include downward sloping palphebral fissures, broad thumbs and halluces, and mental retardation[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • HAIR-AN Syndrome

    The most common cause of hirsutism is polycystic ovarian syndrome. Patients with "idiopathic" hirsutism have normal ovulatory cycles and androgen levels.[ncbi.nlm.nih.gov] Med. org] Daumen und Zehen In 1963, Rubinstein and Taybi first described a malformation syndrome characterized by distinctive facies, mental retardation, broad thumbs, and[o8c.jp] The most common cause of hirsutism is polycystic ovarian syndrome. Patients with “idiopathic” hirsutism have normal ovulatory cycles and androgen levels.[doi.org]

  • Hypertelorism

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

  • Mucopolysaccharidosis 2

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

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

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

  • 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[ncbi.nlm.nih.gov] Unusually broad nails of normal length are found over digits with duplication of the distal phalanx.[rrnursingschool.biz] He was noted to have a depressed nasal bridge, coarse scalp hair, hirsutism, nail hypoplasia, and hypoplasia of the fifth digits bilaterally.[nature.com]

  • Hypertrichotic Osteochondrodysplasia

    Hirsutism of the lower back (B) and forearms(C) Figure 3 All images are from a woman age 40 years.[ncbi.nlm.nih.gov] thumbs and toes 6 families Gingival fibromatosis - progressive deafness140917 6 families 2027 Growth deficiency - brachydactyly - dysmorphism 2 families 2055 2 families26[fliphtml5.com] In the condition known under the designation hypertrichotic osteochondrodysplasia (Cantu syndrome, OMIM 239850), the phenotypic spectrum includes early-onset hypertrichosis[rrnursingschool.biz]

  • 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[ncbi.nlm.nih.gov] thumbs and toes, and tracheoesophageal fistula.[nature.com] 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.[karger.com]

  • Weaver Syndrome

    Additional features include hirsutism and an umbilical hernia. Hearing loss can sometimes occur.[marshallsmith.org] […] 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[rarediseases.info.nih.gov] Physical characteristics of Marshall-Smith Syndrome include excessive hair growth (hypertrichosis), a long head with a prominent forehead, prominent eyes, and/or an upturned[rarediseases.org]

  • Spondyloepiphyseal Dysplasia

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

Further symptoms

Similar symptoms