WebHunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the … Web9q- syndrome; 9q34.3 microdeletion syndrome; Chromosome 9q ... callosum Bowel incontinence Cerebral cortical atrophy Cryptorchidism Delayed eruption of teeth …
Jacobsen syndrome: MedlinePlus Genetics
WebVideo recordings of 5 minutes (300 seconds) duration served as a basis for stop watch registrations of tongue protrusion and open mouth habit. Before treatment, the duration … WebJun 29, 2024 · Cri du chat: 5p deletion: Small head and jaw; wide eyes; skin tags in front of eyes; round face with full cheeks; hypertelorism; epicanthal folds; down-slanting … fidlock 590 bottle
Hypotonia, ataxia, and delayed development syndrome (HADDS)
WebApr 18, 2024 · Clinical characteristics: Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and downturned mouth. … WebJun 20, 2024 · Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder that affects many organ systems. RSTS is characterized by growth delays, distinctive facial features, intellectual disability (with an average IQ of 36-51), abnormally broad and often angulated thumbs and great toes (halluces), and feeding difficulties (dysphagia). WebMar 13, 2024 · The distinctive facial appearance included microcephaly, midface hypoplasia, prominent eyes, epicanthal folds, long eyelashes, synophrys, low-set ears with long earlobe, flat nasal bridge with short upturned nose, open mouth appearance, full lower lip, and downturned mouth. Unlike previously reported patients, she had severe anal stenosis. fidlock 590 water bottle