A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.
SNOMEDCT-BE (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. / 720570007
This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and greattoes (type D brachydactyly). It has been described in four males from one family (two brothers and two mater
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