WebJan 27, 2024 · Brief description. Broad hallux phalanx. Full description or abstract. An increase in width in one or more phalanges of the big toe. [HPO:probinson] Collection. … WebNeurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, …
Orofaciodigital syndrome 2 - About the Disease - Genetic and …
WebAug 13, 2024 · Broad Thumb-Hallux Syndrome; RSTS; RTS; Rubinstein Syndrome; Rubinstein-Taybi Deletion Syndrome DESCRIPTION. Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder with onset during early childhood. RTS affects multiple organ systems and is characterized by marked mental disability and physical abnormalities. Webmental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and … new look returns to store
Rubinstein-Taybi Syndrome (Rubinstein-Taybi syndrome): …
WebThe great toe may be abnormally broad and deviated medially. [disorders.eyes.arizona.edu] Syndactyly (Feet) A splay can appear between the great and second toes. Skin examination frequently reveals a deep skin cleft at the medial midfoot. View/Print Figure FIGURE 2. WebJan 28, 2024 · Broad hallux (HP:0010055) Broad thumb (HP:0011304) Coronal craniosynostosis (HP:0004440) Downslanted palpebral fissures (HP:0000494) Frontal bossing (HP:0002007) Hypertelorism (HP:0000316) Sensorineural hearing impairment (HP:0000407) Method 1: Genotyping WebMar 13, 2024 · Patients with Rubinstein-Taybi are at risk for many other medical conditions and complications including: Reported anomalies include: ventricular and atrial septal … new look ricoh