Phenotype #0000125693

Individual ID	00152959
Associated disease	?
Diagnosis/Initial	syndactyly, isolated
Diagnosis/Definite	-
Phenotype details	A female with bilateral hand anomalies. syndactyly of the third and fourth fingers resulting in oligodactyly was found. Specifically, the bones of the proximal phalanges of the 3rd and 4th digits were fused with a single middle and distal phalanges and a single nail. Five metacarpals and five proximal phalanges were present in both hands. The third proximal phalanx of the right hand was small. The creases of the proximal, middle and distal phalanges were hypoplastic. The thumbs and index fingers were normal. The 5th digits had mild clinodactyly at the middle phalanx. The wrists and forearms were normal, as were both feet. At age 7 years, she was noted two missing upper canine teeth.
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Rivka Sukenik Halevy
Database submission license	No license selected
Created by	Rivka Sukenik Halevy
Date created	2018-02-04 17:37:53 +01:00 (CET)
Date last edited	2018-02-14 22:24:08 +01:00 (CET)