Studied by 0 peopleLandau-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
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