Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia


Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.


* Extra digits * Very short fingers * Absent shin bone * Small shin bone * Facial dysmorphism * Underdeveloped genitals * Missing fingernails * Webbed toes * Short toes * Small penis * Malformed ears * Wide set eyes * Clubfoot * Horseshoe kidney * Webbed elbows * Webbed knees * Webbed wrists * Horseshoe kidney * Telecanthus * Small eyelids * Flat nose bridge * Small mouth * Underdeveloped scrotum * Absent labia minora * Small clitoris


1. Acro-reno-ocular syndrome 2. Acrocallosal Syndrome (Schinzel Type) 3. Acrocephalopolydactyly II 4. Bardet-Biedl Syndrome 5. Barnicoat-Baraitser syndrome 6. Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 7. C Syndrome 8. Carpenter syndrome 9. Cerebrorenodigital syndrome with limb malformations and triradiate acetabula 10. Chondrodysplasia, Grebe type


The phrase "signs of Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" should, strictly speaking, refer only to those signs and symptoms of Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia that are not readily apparent to the patient.