These mutations does not enable the affected protein to work correctly thus resulting in extremely fragile skin, and other manifestations of EB including: anemia, cardiomyopathy, syndactyly
(fusion of the fingers and toes), renal insufficiency, dysphagia (difficulty swallowing), malnourishment, cancer, constipation, osteoporosis, muscular dystrophy and pyloric atresia.
Warren's condition has also left him with partial vision, as well as syndactyly
of his hands, meaning his fingers and thumbs are fused together.
He had bilateral 3-4 complete cutaneous syndactyly
of his hands (Fig.
It includes hypoplasia of the distal phalanges/nails, a 'finger-like' thumb, syndactyly
, polydactyly, absent palmar creases and positional limb defects like club feet.
Other manifestations of EB include anemia, cardiomyopathy, syndactyly
(fusion of the fingers and toes), renal insufficiency, dysphagia (difficulty swallowing), malnourishment, cancer, constipation, osteoporosis, muscular dystrophy, and pyloric atresia," the (http://www.
We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly
, which handicaps the sufferer in performing the daily routine work.
Upper extremity anomalies associated with TAR syndrome include hypoplastic ulna, hypoplastic humerus and syndactyly
They don't have to live with the disorder called Syndactyly
as it can be treated, but the family doesn't acknowledge it as a medical problem.
Birth anomalies were described as follows, based on the criteria of the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10): talipes equinovarus (n = 1), polydactyly (n = 1), syndactyly
(n = 1), other congenital anomaly of the foot (n = 2), Down syndrome (n = 3), macrocephaly (n = 1), unspecified syndrome (n = 1), spina bifida (n = 1), unspecified brain abnormality (n = 1), congenital anomaly of male genital tract (n = 1), unspecified head and neck abnormality (n = 2), and multiple malformations (n = 1).
There were a few blisters on the left second and fifth toe with sclerosis of skin and partial syndactyly
of second and third toes (figure 2).
In control group few abnormalities like syndactyly
Katherine and her husband, Keith, wanted a funeral for Grace, who was diagnosed after her death with Cenani-Lenz syndactyly
syndrome, a genetic disorder that causes severe bone malformation.