split-hand/foot malformation with long bone deficiency type 1
MIM.119100 1q42.2-q43
Definition: Autosomal dominant malformative association.
Synopsis
limb anomalies
- cleft hand
- absent middle finger
- flexed ring finger
- absent tibia (tibial agenesis or tibial aplasia)
- absent forearm
- tetramonodactyly (foru limb ectrodactyly)
- transverse hemimelia
- hypoplastic big toes
- cup-shaped ears
- distal hypoplasia or bifurcation of the femurs
- ulnar hypoplasia/aplasia
- patellar aplasia
cardiovascular (#17159515#)
bronchopulmonary malformations (#17159515#)
See also
malformative combination
References
Lee ML, Chen M.Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations.Clin Dysmorphol. 2007 Jan;16(1):47-9. PMID: #17159515#
Raas-Rothschild A, Nir A, Ergaz Z, Bar Ziv J, Rein AJ.Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.Am J Med Genet. 1999 Jun 4;84(4):361-4. PMID: #10340652#