Genetic Syndromes

A child with Landau-Kleffner Syndrome is undergoing treatment. Which of the following are common symptoms of this syndrome? Select all that apply.

A newborn presents with several notable physical characteristics, including a small lower jaw, a cleft of the soft palate without lip involvement, and an unusual tongue position that frequently obstructs the airway. The child also has low-set ears and a deformity in the middle ear bones, contributing to recurrent ear infections and hearing loss. Given these features, which genetic syndrome is most likely associated with this presentation?

A 5-year-old patient presents with fused fingers involving the second, third, and fourth digits, a flat forehead, underdeveloped midface, and a high, arched palate. The child also shows articulation issues with /s/ and /z/ sounds and demonstrates a forward tongue posture. Which genetic syndrome do these characteristics most likely indicate?

Which syndrome features a happy demeanor, hand-flapping, and minimal to no expressive language?

Which syndrome is caused by an absence of the short arm of chromosome 5?

Which syndrome includes progressive blindness and sensorineural hearing loss?

Which syndrome features mandibular hypoplasia and glossoptosis?

Which syndrome is caused by a missing or deformed X chromosome and occurs only in females?

Which syndrome often includes short stature, feeding issues, and an abnormally high-pitched voice?

Which syndrome affects connective tissue and is associated with restrictive lung disease?

Which syndrome involves loss of language skills between ages 3–7?

Which syndrome often includes a cat-like cry in infancy?

Which syndrome commonly results in hyperphagia and obesity after the first year?

A 5-year-old exhibits distinct craniofacial features: midface dysplasia, brachycephaly, a protruding and fissured tongue, and a short neck with excess skin at the nape. The child also has short fingers and experiences conductive hearing loss, contributing to language development challenges. Considering this presentation, which genetic syndrome is most likely?

A toddler shows weak control of the tongue and facial muscles, leading to issues with bilabial sounds and difficulties in both feeding and speech. There is evidence of unilateral or bilateral paralysis of the eye abductors, and the child presents with a masklike face. These characteristics suggest a syndrome affecting multiple cranial nerves. Which syndrome is most consistent with this profile?

A 10-year-old boy has been observed exhibiting involuntary motor movements such as head jerking, neck stretching, and body twisting that wax and wane over weeks. He also frequently clears his throat and grunts involuntarily. These behaviors began around age 8 and have become increasingly noticeable in school and at home. Which neurological disorder most likely explains this presentation?

A 6-year-old child presents with a hunched back, dwarfism, and coarse facial features including a low nasal bridge and thick, everted lips. The child also exhibits significant hearing loss and has a history of frequent chest infections. Which metabolic disorder best explains these clinical features?

A 5-year-old child presents with underdeveloped facial bones, including a small chin and malar hypoplasia. The child also exhibits downwardly slanted palpebral fissures, dental malocclusion, and has a history of recurrent middle ear infections. Which syndrome is most likely given these craniofacial and auditory features?

An adolescent female exhibits congenital swelling of the feet and hands, a low posterior hairline, and a narrow maxilla with a high palate. She has experienced visual-spatial challenges and attention deficits along with language disorders. Which genetic disorder most likely accounts for her multisystem involvement?

A 4-year-old child presents with developmental delays noted since infancy, frequent laughter, and a happy demeanor. The child exhibits a stiff, jerky gait, hand-flapping movements when excited, and a short attention span. Although verbal expression is limited, the child demonstrates better receptive language skills than expressive skills. Which condition best fits these characteristics?

A 7-year-old boy is referred for evaluation due to dental anomalies, including small, widely spaced teeth, and a history of hypercalcemia causing irritability in infancy. The child is gregarious and unafraid of strangers, demonstrating strong language and musical abilities despite a mild intellectual disability. Medical exams revealed narrowing of the aorta. Which diagnosis best fits this profile?

A young male is referred for evaluation due to delayed language development, cluttered speech, and pragmatic language difficulties. Physical examination reveals a high forehead, large ears, and a prominent jaw. Behavioral concerns include anxiety, mood instability, and attention deficits. Which syndrome is consistent with this presentation?

An infant with glossoptosis, mandibular hypoplasia, and low-set ears is evaluated for airway obstruction and feeding problems. The child has required a gastrostomy tube for feeding and shows signs of velopharyngeal incompetence. Which genetic condition is most consistent with these findings?

A child with a confirmed deletion on chromosome 22q11.2 is noted to have a cleft soft palate, learning difficulties, and an elongated face. Additional findings include almond-shaped eyes, a wide nose, and recurrent ear infections. The child's speech is hypernasal with articulation errors. What is the most likely diagnosis?

A 7-year-old boy presents with a history of craniosynostosis surgery and has mild intellectual disability. He has thickened alveolar processes, class III malocclusion, and a long soft palate. Speech concerns include hyponasality and articulation errors. He also has fused fingers on both hands. Which syndrome is most consistent with these findings?

A pediatric patient with low-set ears, hypertelorism, and a narrow oral cavity is being evaluated for delayed speech and language development. The child also has microcephaly and laryngeal hypoplasia. What genetic condition is most consistent with these features?