Alopecia-Epilepsy-Oligophrenia syndrome of Moynahan

What is Alopecia-Epilepsy-Oligophrenia syndrome of Moynahan?

Alopecia-Epilepsy-Oligophrenia syndrome of Moynahan is a rare disease. It is also known as Moynahan Alopecia Syndrome.

This refers to a number of case reports in which sibs have had congenital universal atrichia and mental retardation, with or without microcephaly and seizures. Other cases with deafness and hypogonadism are probably separate - see Crandall (1973). The family reported by Moynahan (1962) is difficult to place, in that three relatives had a minor degree of alopecia and the hair subsequently grew.
Pridmore et al., (1992) suggest that these patients are heterogeneous and can be split into three groups. The first group contains cases with congenital total alopecia and microcephaly (Baraitser et al., 1983; Mosavy 1975; Pfeiffer and Volklein 1982; Hannig and Tiller, 1995). The second group have alopecia and mental retardation, with or without seizures, but without microcephaly (Moynahan, 1962; Richieri-Costa and Frota-Pessoa, 1979). The third group is represented by the two male infants from a consanguineous Pakistani pedigree with subtotal alopecia, microcephaly, mental retardation and seizures reported by Pridmore et al., (1992).
The condition reported by Shokeir et al., (1977) was associated with pyorrhoea and was inherited in a dominant manner. Timar et al., (1993) reported a similar case with a giant pigmented nevus.
Sailani et al. (2017) reported a consanguineous family with seven affected individuals (3 females and four males, 3 to 24 years old) carrying a homozygous missense mutation in ASGH gene. All the patients had alopecia and intellectual disability with an IQ ranging between 40 and 54. All females and one male presented with partial alopecia, while remaining males presented with complete alopecia.

Read More

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

What gene changes cause Alopecia-Epilepsy-Oligophrenia syndrome of Moynahan?

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 - 203600 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Alopecia-Epilepsy-Oligophrenia syndrome of Moynahan?

The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Seizure, Sensorineural hearing impairment, Short stature, Hyperkeratosis, Cognitive impairment, Decreased body weight, EEG abnormality, Microcephaly, Sparse hair, Alopecia, Abnormality of the genital system, Intellectual disability

How does someone get tested for Alopecia-Epilepsy-Oligophrenia syndrome of Moynahan?

The initial testing for Alopecia-Epilepsy-Oligophrenia syndrome of Moynahan 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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!