Paula and Bobby
Parents of Lillie
Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay
What is Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay?
Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Ladda et al., (1993) reported two brothers with an apparent form of ectodermal dysplasia associated with malformations. They both had sparse blond hair and absent eyebrows and eyelashes. The eyes were deep-set and there was a cleft lip and palate in one brother and a cleft palate alone in the other. Both sibs had camptodactyly and hypospadias. The second sib died at 10 days but the older sib survived and had developmental delay. Dental development was delayed and the incisors were conical and lateral mandibular incisors were absent. Other teeth were small. Sweating was apparently normal. The nails were hypoplastic. A microdeletion at the X-linked hypohidrotic ectodermal dysplasia locus did not appear to be present using available probes. Inheritance is uncertain.
* This information is courtesy of the L M D.
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What gene changes cause Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 - 301815 (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, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay?
The typical symptoms of the syndrome are:
X-linked inheritance, Cleft palate, Oral cleft, Lacrimation abnormality, Non-midline cleft lip, Ectodermal dysplasia, Limitation of joint mobility, Arthrogryposis multiplex congenita, Congenital contracture, Global developmental delay, Cognitive impairment, Growth delay, Hypohidrosis
How does someone get tested for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay?
The initial testing for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 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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