Paula and Bobby
Parents of Lillie
Schuurs-Hoeijmakers syndrome (SHMS)
What is Schuurs-Hoeijmakers syndrome (SHMS)?
Also known as PACS1, this genetic syndrome is a neurodevelopmental disorder. There are just 30 identified cases of the syndrome to date.
Defining features of the this rare disease include, intellectual disability, speech and language issues, as well as unique facial features. Some affected individuals also receive a diagnosis of autism spectrum disorder.
Intellectual disability - PACS1 mutations
What gene changes cause Schuurs-Hoeijmakers syndrome (SHMS)?
Mutations in the PACS1 gene are responsible for the syndrome, and the majority of diagnosed cases so far have all been new gene mutations.
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 Schuurs-Hoeijmakers syndrome (SHMS)?
Common physical characteristics of the syndrome include a short stature and small head.
Unique facial features of the disorder include thick and highly arched eyebrows, long eyelashes, widely set eyes and downward slanting palpebral fissures. Droopy eyelids, a rounded nasal tip, wide mouth, thin upper lip, smooth philtrum, widely spaced teeth and low set ears are also common to the syndrome.
Individuals with Schuurs-Hoeijmakers syndrome usually have very delayed language development and behavioral issues including ADHD, OCD and other conditions. Intellectual disability is also a characteristic.
The condition may also cause issues with learning how to eat food with affected individuals preferring soft foods, and many individuals also suffer from reflux.
Possible clinical traits/features:
Smooth philtrum, Downslanted palpebral fissures, Cryptorchidism, Global developmental delay, Hypertelorism, Highly arched eyebrow, Wide intermamillary distance, Speech apraxia, Volvulus, Synophrys, Intellectual disability, Macrotia, Low-set ears, Long eyelashes, Low anterior hairline, Autosomal dominant inheritance, Pes planus, Seizure, Single umbilical artery, Cavum septum pellucidum, Bulbous nose
How does someone get tested for Schuurs-Hoeijmakers syndrome (SHMS)?
The initial testing for Schuurs-Hoeijmakers 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.
Medical information on Schuurs-Hoeijmakers syndrome (SHMS)
Schuurs-Hoeijmakers et al., (2012) reported 2 unrelated children who were remarkably similar facial features (downslanting palpebral fissures, hypertelorism, arched eyebrows, low anterior hairline, thin upper lip, large lowset ears and bulbous nasal tip. Both were found to have PACS1 mutations. Another case was reported by Gadzicki et al., (2015) who note the facial similarities with the 2 patients reported by Schuurs-Hoeijmakers et al (2012) patients. They note specifically, the hypertelorism, down-slanting palpebral fissures, thin upper lip, a wide mouth with down-turned corners and a cupid bow.
A female patient with a de novo novel heterozygous missense mutation in the PACS1 gene was described by Miyake et. al. (2018). She had developmental delay, short stature, growth impairment, hypotonia, microcephaly, and typical dysmorphic features (arched eyebrows, widely spaced eyes, wide mouth with downturned corners, and thin upper vermilion).
* This information is courtesy of the L M D.
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