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Orphanet: Clinical signs and symptoms
ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome The phenotypic description of this disease is based on an …
Orphanet: Absent thumb-short stature-immunodeficiency syndrome
Disease definition An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with …
Entry - 188150 - THUMB DEFORMITY AND ALOPECIA - OMIM
A family with hypotrichosis associated with congenital hypoplasia of the thumb. Jpn. J. Genet. 24: 111-117, 1979. Winter, R. M., …
Entry - #188740 - TIBIA, HYPOPLASIA OR APLASIA OF ... - OMIM
Lo (1981) described a patient with bilateral aplasia or hypoplasia of the tibia and unilateral syndactyly of fingers 3 and 4. Cousins of …
Thumb Hypoplasia and Aplasia - Boston Children's Hospital
What is thumb hypoplasia and aplasia? Thumb hypoplasia means that your child’s thumb is unusually small or underdeveloped. This …
Thumb Hypoplasia and Aplasia (Small or Missing Thumb)
X-rays may also help the doctor learn more about the structure of your baby’s thumb. How are thumb hypoplasia and thumb aplasia …
Thumb Agenesis, Short Stature, and Immunodeficiency
A rare syndrome with combined immunodeficiency characterized by thumb aplasia, short stature with skeletal abnormalities including …
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