Syndromes 1
"cry of the cat” syndrome; High-pitched cry sounding like a cat; Wide-set eyes, low set ears, micrognathia (receding jaw), rounded face; Delayed development, ID, microcephaly, hypotonia (low tone), possible clefts; Speech and language related to ID; feeding problems; 1 in 20,000 to 50,000 newborns
Cri du Chat Syndrome
Significant limitations both in intellectual functioning and adaptive behavior; onset before age 18; IQ: below 70;
Intellectual Disability
Hypotonia, poor growth, narrow forehead, almond-shaped eyes, triangular mouth, short stature; Insatiable appetite in childhood; Mild-moderate ID, LD, behavior problems (associated with the food issues); Feeding difficulties, delayed development; Significantly overweight; poor growth overall
Prader Willi Syndrome
Overgrowth syndrome; omphalocele; umbilical hernia; macroglossia; feeding problems(FTT); 1 in 13.7k births
Beckwith Weidemann Syndrome
Small head size, smooth philtrum, shorter stature; Fetal growth retardation, ID, ADD/ADHD, LD, behavior disorders, poor coordination – varied degree of severity; Feeding problems, language impairments, poor; Social skills, poor memory, poor reasoning/judgment
Now: Mucopolysaccharidosis Type I; Macrocephaly, hydrocephalus, “coarse” facial features, macroglossia, enlarged vocal cords; Macrocephaly predominance (large head); Severe form (1 in 100,000 newborns): ID, DD with regression, shortened lifespan; Attenuated form (1 in 500,000 newborns): possible LD, ID, longer lifespan
Hurler's Syndrome
Trisomy 21 (95%); mild to moderate ID, hypotonia, visual and hearing difficulties, dental problems, characteristic facial features; primarily conductive hearing loss; Flattened facial profile; lower than average height; eyes are wide set; normal but delayed language: delayed babbling; vocab; grammar; lang. delay may not always coordinate with cognitive profile; poor auditory memory; 40-50yrs old- Alzheimer like symptoms; pragmatics is a relative strength
Gene mutation in X chromosome; most common known hereditary cause of ID (can range from mild-pretty severe); one of the most inherited; 1 in 4,000 males and 1 in 8,000 females; Long, narrow face; prominent jaw/forehead; large ears – often identified in later childhood; autistic behaviors; attention problem (used to be considered one of the ASDs); Speech and language impairments: late talking (AAC); articulation; voice; expressive vocab; grammar; pragmatics
Fragile X
Umbrella term for neurological disorders that appear in infancy/early childhood and permanently affect body movement, posture, and muscle coordination; Majority born with it although may not be diagnosed until later; Can have feeding and speech problems (dysarthria);Spastic, Dyskentic, Ataxic, Mixed; 3.1 in 1,000 children (1 in 323)
Cerebral Palsy
Repetitive, sudden, involuntary movements or noises (tics); Muscle tics and vocal/phonic tics, echolalia, palilalia; at risk of ADHD, OCD, anxiety, depression
Hearing loss /deafness either at birth or within first year of life and progressive vision loss beginning in childhood; Speech problems associated with hearing loss; Thought to be responsible for 3-6% of all childhood deafness and about 50% of deaf- blindness in adults
Usher Syndrome
Inherited autosomal dominant; affects Connective tissue in many parts of body; Vision problems and aortic defects; Tall and slender, long and narrow face, crowded teeth, scoliosis
Marfan Syndrome
Broad forehead, short nose with broad tip, full cheeks, wide mouth with full lips (“elfin”); Expressive language is better than receptive language; Mild to moderate ID, LD; Deficits in visual-spatial abilities (shapes will not be connected) and fine motor skills (decreased penmanship) skills (e.g., drawing); Loquaciousness, surprisingly adept social skills; fluent production; They cannot engage with you for more than 2-3 turns; cannot get in depth; ”cocktail party speech”
Williams Syndrome
Short stature, webbed neck, high arched palate, receding lower jaw, low-set ears; Normal IQ; Difficulty with spatial-temporal processing, nonverbal memory, attention; May have speech difficulties and social skills; deficits
Turner Syndrome
micrognathia, glossoptosis, cleft palate; can be part of the stickler syndrome
Pierre Robin Syndrome
Premature fusion of skull bones (craniosynostosis);Syndactyl; Underdeveloped maxilla; IQ: Normal to mild or moderate ID; Can also include conductive hearing loss and cleft palate; 1 in 65K - 88K newborns
Apert Syndrome
Complex genetic disorder primarily affecting the nervous system; Delayed development, ID, ataxia, seizures, microcephaly; Severe speech and language impairment; 1 in 12K- 20K people
Angelman Syndrome
Rare childhood neurological disorder characterized by the sudden or gradual development of aphasia and abnormal EEG; Easy to miss mini focal seizures; typically rare; Usually occurs between ages 5 and 7; May be misdiagnosed as autism, hearing impairment, LD, ADD, schizophrenia, emotional/behavioral problems
Landau-Kleffner Syndrome
Underdeveloped facial bones, micrognathia, most have cleft palate, downward slanting eyes, absent/small/ unusually formed ears; Hearing loss (1/2), visual deficits; Normal IQ
Treacher Collins Syndrome
Slow growth before and after birth (FTT); Stunt growth; low incidence disorder; facial asymmetry; Some mild cases go undiagnosed; Small triangular face with prominent; forehead, narrow chin, small jaw, down-turned corners of mouth
Russel Silver Syndrome
22q11.2 Deletion Syndrome, Shprintzen Syndrome, DiGeorge Syndrome, Optiz G/BBB Syndrome, Cayler Cardiofacial Syndrome; Problem with velum;cardia and facial; Chromosomal defect on the 22nd chromosome; Cleft palate, heart abnormalities, distinctive facial features
Velocardiofacial Syndrome
Facial weakness/paralysis from absence or underdeveloped CN VI and CN VII resulting in lack of facial expressions (cannot smile, frown, raise eyebrows) and side-to-side eye movement, microagnathia, microstomia (small mouth; narrow ear canal), short or unusually shaped tongue, cleft or high/arched palate, hypotonia, hearing loss
Affects face, eyes, ears, heart, genitourinary, growth and development; Affects chromosome 8; Cranial nerve abnormalities: swallowing problems, facial paralysis, diminished or absent sense of smell; hearing loss; Square-shaped face, facial asymmetry; Range of IQ, DD, cleft lip/palate, TEF; (tracheoesophageal fistula); Feeding problems, speech and language impairments; 1 in 8,500 to 10,000 individuals
CHARGE Syndrome
1. Craniosynostosis resulting in wide-set bulging eyes underdeveloped maxilla, hearing loss; Possible cleft and palate; Normal IQ; but they do have speech disorders associated with hearing loss and palate; 16 per million newborns (1 in 62,500); most common craniosynostosis syndrome
2. Severe ID and physical abnormalities: heart defects, brain/spinal cord abnormalities, very small/poorly developed eyes, polydactyly,; Cleft lip with or without cleft palate, hypotonia; Most die within first days/weeks; 5-10% life past first year
1. Crouzon Syndrome
2. Trisomy 13 (Patau Syndrome)
1. Failure of embryonic forebrain to divide and form the two halves of the of the cerebrum; Anterior midline brain, cranial, and facial malformations; Alobar: severe ID, cleft lip/palate, microcephaly (babies don’t have lobes; fails to differentiate into various lobes); Semilobar: eye deficits, nasal malformations, variable degrees of ID (brain semi-develops); Lobar: mild/absent facial malformations, normal IQ to mild ID
2. Small testes; development of enlarged breasts at puberty; taller stature; Not generally although may have lower IQs than family members; Language delays – late talkers and continuing impairments; difficulties reading and writing; social deficits
2. Klinefelter Syndrome