WebRubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected ... WebMay 20, 2024 · - Broad, duplicated halluces or triplicated halluces [UMLS: C5195631] NEUROLOGIC . Central Nervous System - Intellectual disability, severe [SNOMEDCT: 40700009] [ICD10CM: F72] [ICD9CM: 318.1] [UMLS: C0036857 HPO: HP:0010864] [HPO: HP:0010864] ... - Broad, duplicated halluces or triplicated halluces [UMLS: C5195631]
HALLUCES definition in the Cambridge English Dictionary
Broad thumbs and first toes (halluces) with associated webbing and radial deviation of fingers (particularly clinodactyly of the little finger) Variable cardiac (33%) eg, patent ductus arteriosus, genitourinary, digestive, ENT (ear, nose, and throat), and skin malformations; Cryptorchidism; Anxiety; Attention deficit hyperactivity disorder (ADHD). WebHalluces are long, broad and medially deviated, while the other toes are laterally deviated and remarkably short with hypoplastic phalanges. She also showed developmental delay, seizures, lack of eye contact, stereotypic and repetitive hand movements and sleep disturbances with breath holding. flexible choice crossword
About: Rubinstein-Taybi syndrome - North Carolina State University
WebSCS: A craniosynostosis syndrome (OMIM:101400) characterised by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces and clinodactyly; about half of female patients with Saethre-Chotzen syndrome eventually develop breast cancer. Molecular pathology Caused by defects of TWIST1, which … WebJan 23, 1998 · Abstract. We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients with PS type 2 died shortly after … WebOther features included diastema, short neck, pectus deformities, and broad halluces … flexible child care