DEFINITION
Aarskog-Scott syndrome is a hereditary disease characterized by short stature, facial abnormalities, bone and genital anomalies. Aarskog-Scott syndrome (AAS) is also known as Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and dysplasia faciogenital.
SYMPTOMS
Aarskog-Scott syndrome is a disorder with short stature, hypertelorism, palpebral fissure downslanting, anteverted nose, joint weakness, shawl scrotum, and mental retardation. Physical phenotype varies with age and male postpuberal may only have a small residual manifestation of prepuberal phenotype.
Aarskog-Scott syndrome is a hereditary disease characterized by short stature, facial abnormalities, bone and genital anomalies. Aarskog-Scott syndrome (AAS) is also known as Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and dysplasia faciogenital.
SYMPTOMS
Aarskog-Scott syndrome is a disorder with short stature, hypertelorism, palpebral fissure downslanting, anteverted nose, joint weakness, shawl scrotum, and mental retardation. Physical phenotype varies with age and male postpuberal may only have a small residual manifestation of prepuberal phenotype.
Growth
mild to moderate short stature proved to 1-3 years
delayed adolescent growth spurt
Performance
slightly (dull normal) to moderate mental deficiency
attention deficit and hyperactivity
social performance is usually better
mild to moderate short stature proved to 1-3 years
delayed adolescent growth spurt
Performance
slightly (dull normal) to moderate mental deficiency
attention deficit and hyperactivity
social performance is usually better
Face
round face
o widow's peak hair
wide-set eyes (hypertelorism)
melancholy eyelid (blepharoptosis)
downslanting slit eye (palpebral fissures)
Small nose with nostrils tipped forward (anteverted)
retarded middle part of the face (jaw)
wide groove above the upper lip (philtrum broad)
crease below the lower lip
delayed tooth eruption
the top (upper helix) of the ear folded over slightly
round face
o widow's peak hair
wide-set eyes (hypertelorism)
melancholy eyelid (blepharoptosis)
downslanting slit eye (palpebral fissures)
Small nose with nostrils tipped forward (anteverted)
retarded middle part of the face (jaw)
wide groove above the upper lip (philtrum broad)
crease below the lower lip
delayed tooth eruption
the top (upper helix) of the ear folded over slightly
Hands and feet
small, broad hands and feet
short fingers and toes (brakhidaktili)
be curved out of 5 fingers (clinodactyly)
mild interdigital webbing, between fingers and toes
single transverse "monkey creases" in the palm of the hand
broad thumbs and big toes
small, broad hands and feet
short fingers and toes (brakhidaktili)
be curved out of 5 fingers (clinodactyly)
mild interdigital webbing, between fingers and toes
single transverse "monkey creases" in the palm of the hand
broad thumbs and big toes
Neck
short neck
webbing of the neck
short neck
webbing of the neck
Chest
mild pectus excavatum (sunken chest)
mild pectus excavatum (sunken chest)
Abdomen
protruding navel
inguinal hernia
protruding navel
inguinal hernia
Genitalia
Shawl Scrotum
not dropped testicles
GENETICS
Aarskog-Scott syndrome is transmitted as an X-linked recessive. The girls are at risk of 50% of the carriers affected by the syndrome. The daughters of female carriers are at risk of 50% of the operator to be yourself. Women may have mild manifestations of the syndrome. This syndrome is caused by mutations in a gene called FGDY1 in band p11.21 on chromosome X.
Pathophysiology
Aarskog-Scott syndrome is due to mutations in the gene FGD1. FGD1 encode guanine nucleotide exchange factor (GEF) that specifically activate Cdc42, a member of the family (Ras homology) of the p21 Rho GTPases. By activating Cdc42, FGD1 protein stimulates fibroblasts to form filopodia, cytoskeletal elements involved in signaling cellular adhesion, and migration. Through Cdc42, FGD1 protein also activates c-Jun N-terminal kinase (JNK) signaling cascade, a pathway that regulates cell growth, apoptosis, and cellular differentiation.
In the developing mouse skeleton, FGD1 protein expressed in mesenchymal condensations precartilaginous, the perichondrium and periosteum, proliferating chondrocytes, and osteoblasts. These results suggest that FGD1 signaling may play a role in the biology of several different cell types including prechondrocytes framework mesenchymal, chondrocytes, and osteoblasts. Characterizing spatiotemporal patterns of expression in mouse embryos FGD1 have provided important clues for understanding the pathogenesis of Aarskog-Scott syndrome.
It seems likely that the primary defect in Aarskog-Scott syndrome is a disorder of FGD1/Cdc42 signals generated in the development of embryonic anomalies and abnormal bone formation endochondral and intramembranous.
Diagnosis
Genetic testing may be available to a mutation in the gene FGDY1. Genetic counseling is indicated for individuals or families who may carry this condition, because there are overlapping features with fetal alcohol syndrome.
TREATMENT
Surgery may be necessary to correct some anomalies, and orthodontic treatment can be used to repair multiple facial abnormalities. Exam ineffective growth hormone to treat short stature in this disorder.
Prognosis
Mild degrees of mental slowness may be there, but children affected usually have good social skills. Some men may exhibit reduced fertility.
Some recent findings include cystic changes in the brain and generalized seizures. There may be trouble growing in the first year of life in up to one third of the cases. Aligned teeth may require orthodontic correction. An undescended testis will require surgery.
Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causes severe mental retardation and / or autism features.1, 2 seizures frequently observed (80%), 3 vary in age of onset (from newborn to end childhood childhood) and natural (tonic-clonic, "burst suppression" pattern, West syndrome, etc), and is often resistant to all treatment. About 50% of autistic children shows such as microcephaly behaviour.4 rare (1/13 cases reported). Non-specific anomalies of the brain, such as hypoplasia of the vermis, brain atrophy, 5 lack of myelination, white matter anomalies 6, 7 and lissencephaly4 often portrayed.
Other complications: • Low self-esteem • Social difficulties related to physical problems • Male infertility in those with both undescended testes • Problems with the structure of the heart • Accumulation of fluid in the body tissues (lymphedema, cystic hygroma) • Failure to thrive in infants
Shawl Scrotum
not dropped testicles
GENETICS
Aarskog-Scott syndrome is transmitted as an X-linked recessive. The girls are at risk of 50% of the carriers affected by the syndrome. The daughters of female carriers are at risk of 50% of the operator to be yourself. Women may have mild manifestations of the syndrome. This syndrome is caused by mutations in a gene called FGDY1 in band p11.21 on chromosome X.
Pathophysiology
Aarskog-Scott syndrome is due to mutations in the gene FGD1. FGD1 encode guanine nucleotide exchange factor (GEF) that specifically activate Cdc42, a member of the family (Ras homology) of the p21 Rho GTPases. By activating Cdc42, FGD1 protein stimulates fibroblasts to form filopodia, cytoskeletal elements involved in signaling cellular adhesion, and migration. Through Cdc42, FGD1 protein also activates c-Jun N-terminal kinase (JNK) signaling cascade, a pathway that regulates cell growth, apoptosis, and cellular differentiation.
In the developing mouse skeleton, FGD1 protein expressed in mesenchymal condensations precartilaginous, the perichondrium and periosteum, proliferating chondrocytes, and osteoblasts. These results suggest that FGD1 signaling may play a role in the biology of several different cell types including prechondrocytes framework mesenchymal, chondrocytes, and osteoblasts. Characterizing spatiotemporal patterns of expression in mouse embryos FGD1 have provided important clues for understanding the pathogenesis of Aarskog-Scott syndrome.
It seems likely that the primary defect in Aarskog-Scott syndrome is a disorder of FGD1/Cdc42 signals generated in the development of embryonic anomalies and abnormal bone formation endochondral and intramembranous.
Diagnosis
Genetic testing may be available to a mutation in the gene FGDY1. Genetic counseling is indicated for individuals or families who may carry this condition, because there are overlapping features with fetal alcohol syndrome.
TREATMENT
Surgery may be necessary to correct some anomalies, and orthodontic treatment can be used to repair multiple facial abnormalities. Exam ineffective growth hormone to treat short stature in this disorder.
Prognosis
Mild degrees of mental slowness may be there, but children affected usually have good social skills. Some men may exhibit reduced fertility.
Some recent findings include cystic changes in the brain and generalized seizures. There may be trouble growing in the first year of life in up to one third of the cases. Aligned teeth may require orthodontic correction. An undescended testis will require surgery.
Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causes severe mental retardation and / or autism features.1, 2 seizures frequently observed (80%), 3 vary in age of onset (from newborn to end childhood childhood) and natural (tonic-clonic, "burst suppression" pattern, West syndrome, etc), and is often resistant to all treatment. About 50% of autistic children shows such as microcephaly behaviour.4 rare (1/13 cases reported). Non-specific anomalies of the brain, such as hypoplasia of the vermis, brain atrophy, 5 lack of myelination, white matter anomalies 6, 7 and lissencephaly4 often portrayed.
Other complications: • Low self-esteem • Social difficulties related to physical problems • Male infertility in those with both undescended testes • Problems with the structure of the heart • Accumulation of fluid in the body tissues (lymphedema, cystic hygroma) • Failure to thrive in infants
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