Absent Eyebrows and Eyelashes with Mental Retardation

What is Absent Eyebrows and Eyelashes with Mental Retardation?

Absent Eyebrows and Eyelashes with Mental Retardation is a rare disease. It is also known as Pseudoprogeria Syndrome.

Two brothers were reported by Hall et al., (1974) with a condition that resembled somewhat Hallerman-Streiff syndrome and progeria. They were born with absent eyebrows and eyelashes and developed progressive microcephaly, mental retardation, seizures and spasticity. The skin was soft and velvety with excessive freckling. The face was characterised by ptosis, freckles, a pinched nose and micrognathia (summarised by the authors as 'bird-like facies'). Glaucoma, optic atrophy and a cervical spine cyst (in the older brother) were further features. There are some similarities to the syndrome summarised under Mulvihill (1975).

* This information is courtesy of the L M D.

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What gene changes cause Absent Eyebrows and Eyelashes with Mental Retardation?

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 - 200130 (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 Absent Eyebrows and Eyelashes with Mental Retardation?

The typical symptoms of the syndrome are:
Downslanted palpebral fissures, Absent eyelashes, Microcornea, Delayed skeletal maturation, Encephalocele, Neurological speech impairment, Narrow nasal bridge, Short nose, Micrognathia, Ptosis, Reduced bone mineral density, Progressive spastic quadriplegia, Scoliosis, Short philtrum, Microcephaly, Cognitive impairment, Freckling, Glaucoma, Gait disturbance, Hemiplegia/hemiparesis, Short stature, Hypertonia, Prominent nasal bridge, Optic atrophy, Autosomal recessive inheritance, Thin skin, Seizure, Abnormality of the dentition, Abnormal nipple morphology, Abnormality of the pinna, Absent eyebrow, Convex nasal ridge, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology

How does someone get tested for Absent Eyebrows and Eyelashes with Mental Retardation?

The initial testing for Absent Eyebrows and Eyelashes with Mental Retardation 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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