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Results 1 - 10 of 48 for Thumb
  1. L1 syndrome 
    ... often present from before birth, muscle stiffness (spasticity), thumbs that are permanently bent toward the palms (adducted thumbs), and narrowing (stenosis) of a passageway in the ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  2. Townes-Brocks Syndrome 
    ... and hand malformations that most often affect the thumbs. People with this condition often have at least ... renal-radial malformation syndrome Deafness-imperforate anus-hypoplastic thumbs syndrome Imperforate anus-hand and foot anomalies syndrome ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  3. Rubinstein-Taybi syndrome 
    ... severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder ... history of the disorder in their family. Broad thumb-hallux syndrome RSTS RTS Genetic Testing Registry: Rubinstein- ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  4. Duane-radial ray syndrome 
    ... abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a long thumb that looks like a finger. Partial or complete ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  5. RAPADILINO syndrome 
    ... of the bones in the forearms and the thumbs, which are known as radial ray malformations. The ... show signs and symptoms of the condition. Absent thumbs, dislocated joints, long face with narrow palpebral fissures, ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  6. NOG gene 
    ... stapes fixation.People with stapes ankylosis with broad thumb and toes (also known as Teunissen-Cremers syndrome) ... loss due to stapes fixation, farsightedness, and broad thumbs and big toes. Some affected individuals may have ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  7. CREBBP gene 
    ... severe intellectual disability, distinctive facial features, and broad thumbs and first toes. More than 300 mutations have ... syndrome do not have the facial features and thumb and toe abnormalities characteristic of Rubinstein-Taybi syndrome. ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  8. DOORS syndrome 
    ... have an extra bone and joint in their thumbs, causing the thumbs to look more like the other fingers (triphalangeal thumbs).The seizures that occur in people with DOORS ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  9. CUL3-related neurodevelopmental disorder 
    ... pinky (fifth) fingers that curve inward (clinodactyly), narrow thumbs, underdevelopment of the muscle at the base of the thumb (thenar hypoplasia), or a single crease across the ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  10. EP300 gene 
    ... severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Genetic changes in the EP300 ... syndrome do not have the facial features and thumb and toe abnormalities characteristic of Rubinstein-Taybi syndrome. ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
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