Paula and Bobby
Parents of Lillie
Arthrogryposis and Ectodermal Dysplasia
What is Arthrogryposis and Ectodermal Dysplasia?
Arthrogryposis and Ectodermal Dysplasia is a rare disease. It is also known as Alves Syndrome Todv Syndrome Trichooculodermovertebral Syndrome.
Cote et al., (1982) reported a female who was small at birth and who had no nails. She developed diabetes at the age of 2 years. The authors did not state clearly when the joint contractures began, but by the age of 16 years all her joints were affected. Her hair was sparse, her teeth were yellow and her nails, which had subsequently grown, were brittle. Examination of her hair revealed pili torti and her intelligence was low-normal. The mother reported reduced sweating in her daughter. No pictures are provided. Stoll et al., (1992) reported two sisters with somewhat similar features. The parents were second cousins. The authors commented that their cases and that of Cote et al., (1982) produced large amounts of dry, dark ear wax. Ladda et al., (1989) reported a similar case with cleft lip and palate, but there were no photographs.
* This information is courtesy of the L M D.
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What gene changes cause Arthrogryposis and Ectodermal Dysplasia?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 601701 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Arthrogryposis and Ectodermal Dysplasia?
The typical symptoms of the syndrome are:
Trichodysplasia, Gait disturbance, Hypertrichosis, Ichthyosis, Short stature, Hypohidrosis, Autosomal recessive inheritance, Oligodontia, Trichiasis, Palmoplantar keratoderma, Abnormal dermatoglyphics, Abnormality of dental enamel, Narrow nasal bridge, Short nose, Kyphoscoliosis, Joint contracture of the hand, Micrognathia, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormality of skin pigmentation, Abnormality of calvarial morphology, Aplasia/Hypoplasia of the eyebrow, Anonychia, Cleft palate, Oral cleft, Bruising susceptibility, Cataract, Brachycephaly, Nail dysplasia, Alopecia, Skeletal muscle atrophy, Absent eyebrow, Blepharophimosis, Atypical scarring of skin, Type I diabetes mellitus, Microcephaly, Scoliosis, Spina bifida occulta, Camptodactyly of finger, Telecanthus, Camptodactyly, Dry skin, Ectodermal dysplasia, Finger syndactyly, Arthrogryposis multiplex congenita, Abnormal facial shape, Diabetes mellitus, Everted lower lip vermilion, Entropion, Congenital nuclear cataract, Cleft up
How does someone get tested for Arthrogryposis and Ectodermal Dysplasia?
The initial testing for Arthrogryposis and Ectodermal Dysplasia can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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