Total 31 clinical symptoms reported for Schinzel phocomelia syndrome
| Abnormal tibia morphology |
Abnormality of the tibia (shinbone).
Synonyms:Abnormality of the shankbone; Abnormality of the shinbone; Abnormality of tibia morphology |
Very frequent |
| Aplasia of the ulna |
Missing ulna bone associated with congenital failure of development.
Synonyms:Absent ossification/absent ulna; Absent ulna |
Very frequent |
| Aplasia/Hypoplasia involving the pelvis |
Synonyms:Absent/small pelvis; Absent/underdeveloped pelvis |
Very frequent |
| Aplasia/Hypoplasia of the sacrum |
Aplasia or developmental hypoplasia of the sacral bone.
Synonyms:Absent/small sacrum; Absent/underdeveloped sacrum |
Very frequent |
| Bowing of the long bones |
A bending or abnormal curvature of a long bone.
Synonyms:Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones |
Very frequent |
| Disproportionate short stature |
A kind of short stature in which different regions of the body are shortened to differing extents.
Synonyms:Short stature, disproportionate |
Very frequent |
| Ectrodactyly |
A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
Synonyms:Cleft hand; Lobster claw hand |
Very frequent |
| Fibular aplasia |
Absence of the fibula.
Synonyms:Absent calf bone; Absent fibulae; Absent-hypoplastic fibulae |
Very frequent |
| Finger aplasia |
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
Synonyms:Absent fingers; Aplasia of the fingers; Hand has less than 5 fingers; Hand oligodactyly |
Very frequent |
| Foot oligodactyly |
A developmental defect resulting in the presence of fewer than the normal number of toes.
Synonyms:Missing toes; Oligodactyly of feet |
Very frequent |
| Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
| Nail dysplasia |
The presence of developmental dysplasia of the nail.
Synonyms:Atypical nail growth; Dysplastic nails; Onychodysplasia |
Very frequent |