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Widely spaced eyes, prominent forehead, flat skull posterior, bulging eyes, low-set ears, flat or concave face, short thumb, and webbed fingers: FGFR2: Isolated unilateral coronal synostosis: Only malformation is the premature fusion of sutures; If left untreated, can lead to facial asymmetry resembling SCS: FGFR (any) Baller–Gerold syndrome ...
This may manifest as bluntly ended fingers, extra padding on fingers and toes, edema of the back of hands and tops of feet, and cubitus valgus (wide carrying angle of the elbows). For short stature, growth hormone is sometimes combined with IGF-1 (or as an alternative, IGF-1 as a stand-alone) can be used to achieve an increased height/final ...
type I: 2q34-q36; [5] webbing occurs between middle and ring fingers and/or second and third toes. type II: 2q31; [6] also involves long and ring fingers, but has a sixth finger merged in between. type III: 6q21-q23; small finger is merged into the ring finger. type IV: 7q36; [7] involves all fingers and/or toes.
Other physical abnormalities associated with Carpenter syndrome include extra digits. Extra toes are more commonly seen than fingers. Often both the toes and fingers are webbed, a process that occurs before the sixth week gestational period. Often their digits will be abnormally short, and the fingers are commonly missing an interphalangeal joint.
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe . [1]
A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. There are many variants. Signs and symptoms
Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. [3] [1] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. [1]
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm.