Ayme-Gripp syndrome (AYGRP)

What is Ayme-Gripp syndrome (AYGRP)?

This rare disease is genetic condition that presents with very specific symptoms.

It main features also include what are often referred to as Down syndrome-like facial features.

The syndrome also presents with symptoms that affect multiple parts of the body including the eyes, ears, and skull.

This syndrome is also known as:
Cataracts; Congenital; With Sensorineural Deafness; Down Syndrome-like Facial Appearance; Short Stature; And Mental Retardation

What gene changes cause Ayme-Gripp syndrome (AYGRP)?

Mutations to the MAF gene cause the syndrome. It is inherited in an autosomal dominant pattern but most cases identified to date have been the result of de novo mutations, and the first in their family.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

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 which occurs during the reproductive process.

What are the main symptoms of Ayme-Gripp syndrome (AYGRP)?

The main symptoms of the syndrome are cataracts present at birth, sensorineural hearing loss, brachycephaly (which is a very flat area at the back of the skull) and intellectual disability. Seizures and ptosis are also common symptoms.

Developmental delay in all areas of development, as well as intellectual disability are usually present as features of the syndrome.

Other physical features of the syndrome include a short stature, a flat face, low-set ears, a short nose and long philtrum. Skeletal abnormalities are also common features.

Some individuals also present with gastrointestinal and endocrine disorders.

Possible clinical traits/features:
Pericarditis, Seizure, Posteriorly rotated ears, Sensorineural hearing impairment, Arnold-Chiari type I malformation, Abnormality of the dentition, Wide nasal bridge, Broad eyebrow, Brachycephaly, Cerebral atrophy, Smooth philtrum, Nail dystrophy, Downslanted palpebral fissures, Craniofacial asymmetry, Developmental cataract, Brachydactyly, Malar flattening, Delayed cranial suture closure, Long philtrum, Tapered finger, Low-set ears, Intellectual disability, Mandibular prognathia, Microtia, Short nose, Narrow mouth, Flat face, Camptodactyly, Ptosis, Sparse scalp hair, Upslanted palpebral fissure, Midface retrusion, Radioulnar synostosis, Broad philtrum, Thin upper lip vermilion, Depressed nasal bridge, High forehead, Hypertelorism, Short stature

How does someone get tested for Ayme-Gripp syndrome (AYGRP)?

The initial testing for Ayme-Gripp syndrome (AYGRP) can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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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