Genetic Syndromes

Landau-Fleffner Syndrome

a rare childhood neurological disorder whereby formerly healthy children ages 3-7 years lose their ability to comprehend language and then to speak it

a syndrome caused by autosomal recessive inheritance in most cases, is X-linked in rare cases and may affect 50% of individuals who are deaf and blind

Usher syndrome

is suspected to be caused by autosomal dominant inheritance and deletion in the region of the long arm of chromosome 15 in some cases

Prader-Willi syndrome

the most crucial period for genetic malformations what period that consiste for the first 7-10 weeks of gestation

embryonic

a syndrome often called elfin-face syndrome

williams syndrome

caused by an absence of the short arm of the 5th chromosome

cri du chat syndrome

the leading inherited cause of intellectual disability in males

fragile x syndrome

in hurlers syndrome there is what because of the deposition of metabolites in the larynx

vocal fatigue and hoarseness

70% of people with mafan syndrome have

restrictive lung disease

children with bilateral cleft lip and palate commonly have ___ or missing teeth

hypodontia

what problems are often present in pierre-robin syndrome and exist due to difficulty coordinating breathing, sucking and swallowing

feeding

what causes trisomy 13

extra copy of chromosome 13

when does Angelman syndrome occur

when chromosome 15 is duplicated from the father or delted from the mother

has a heterogeneous causation including agenesis or aplasia of the motor nuclei or the cranial nerves

moebius syndrome

is caused by autosomal dominant inheritance with varied expression in individuals

crouzon syndrome

may be caused by spontaneous autosomal dominant mutations and the gene and locus of the syndrome is FGR at 10q25-26

apert syndrome

an autosomal dominant inherited disorder caused by mutations in the FBN1 gene

marfan syndrome

williams syndrome is caused by abnormality on which chromosome

7