Paula and Bobby
Parents of Lillie
Aminopterin syndrome Sine Aminopterin; ASSA
What is Aminopterin syndrome Sine Aminopterin; ASSA?
Aminopterin syndrome Sine Aminopterin; ASSA is a rare disease. It is also known as Aminopterin ASSAS Fetal methotrexate syndrome Pseudoaminopterin Syndrome.
This is a rare syndrome, not frequently seen now because folic acid antagonists have ceased to be used to stimulate abortion. Facial features are striking and consist of hypoplasia of the cranial vault, causing an unusually shaped head often with a broad forehead, a wide anterior fontanelle and fusion of the lambdoid or coronal sutures. There is an upsweep of the frontal hair, a broad nasal bridge, prominent eyes with shallow supraorbital ridges, a small jaw and low-set ears. In the limbs there is mesomelic shortening, talipes equinovarus and hypodactyly. Those infants who survive may have mild to moderate mental retardation and short stature. Donnenfeld et al., (1994) reported four infants exposed during the first trimester between 0 and 6 weeks - all were normal. It has been suggested that the critical time for development of aminopterin syndrome is 6-8 weeks postconception (Feldkamp and Carey, 1993).
Bawle et al., (1998) reported two interesting cases, including an adult with hand and foot abnormalities consisting of syndactyly of the fingers and hypoplasia of the middle phalanges of the second and fifth fingers, and hypoplasia of the toes with an absent ray. Another child with an absent 5th toe and foreshortened 2nd toe on one side, and 3/4/5 syndactyly on the other side, was reported by Granzow et al., (2003). There was in addition a cleft palate. Holoprosencephaly has also been recorded (Seidahmed et al., (2006). Ectodermal features (poor sweating, slow hair growth with eventual coarse hair and sparse eyebrows, retained primary teeth, hypoplastic breasts) have also been recorded (Aftimos 2009).
* This information is courtesy of the L M D.
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What gene changes cause Aminopterin syndrome Sine Aminopterin; ASSA?
The syndrome is inherited in the following inheritance pattern/s:
Environment - Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.
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 - 600325 (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 Aminopterin syndrome Sine Aminopterin; ASSA?
The typical symptoms of the syndrome are:
Rudimentary postaxial polydactyly of hands, Thoracic scoliosis, Phenotypic variability, Umbilical hernia, Narrow palpebral fissure, Frontal bossing, Clinodactyly, Macrocephaly, Microcephaly, Cleft palate, Arachnodactyly, Brachycephaly, High palate, Highly arched eyebrow, Frontal upsweep of hair, Short stature, Underdeveloped supraorbital ridges, Global developmental delay, Short thumb, Hypertelorism, Low-set ears, Narrow forehead, Muscular hypotonia, Inguinal hernia, Intrauterine growth retardation, Megalencephaly, Micrognathia, Joint contracture of the hand, Syndactyly, Oligodontia, Autosomal recessive inheritance, Posteriorly rotated ears, Brachydactyly, Decreased body weight, Abnormal facial shape, Cryptorchidism
How does someone get tested for Aminopterin syndrome Sine Aminopterin; ASSA?
The initial testing for Aminopterin syndrome Sine Aminopterin; ASSA 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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