| umls-concept:C0795841 | skos:definition | MSH: A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.,NCI: A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia.,JABL: Deletion of the long arm of chromosome 11 with retarded growth and psychomotor development, trigonocephaly, strabismus, short and broad nose with anteverted nostrils, epicanthus, telecanthus, malformed ears, "carp mouth", camptodactyly, and thrombocyto | lld:umls |
