Paula and Bobby
Parents of Lillie
Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)
What is Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
This rare disease was first identified in 2003. Individuals with Noonan Syndrome-Like Disorder with Loose Anagen Hair display some of the unique facial features of Noonan syndrome, combined with the sparse hair of Anagen syndrome.
These unique facial features include a large head (macrocephaly) and wide-set eyes among others.
This syndrome is also known as:
Mazzanti syndrome NSLH Tosti Syndrome
What gene changes cause Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
Mutations in the SHOC2 gene are responsible for the syndrome.
The mutations currently recorded appear to all be of the de novo type. 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 Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
Individuals present with similar facial features to those with Noonan syndrome. This includes a small head, high forehead, wide-set eyes, a short neck, short stature and low set, rotated ears.
These features are combined with Anagen syndrome like hair- hair that is thin, sparse and for the most part slow growing.
Other health conditions associated with the syndrome include congenital heart defects, pigmented skin and other related conditions such as eczema and developmental delay.
Possible clinical traits/features:
Epicanthus, Eczema, Deep philtrum, Delayed skeletal maturation, Brachydactyly, Cryptorchidism, Abnormality of the pulmonary artery, Abnormal palate morphology, Abnormality of the intervertebral disk, Abnormal fingernail morphology, Abnormality of the elbow, Carious teeth, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal hair quantity, Thick lower lip vermilion, Macrocephaly, Loose anagen hair, Strabismus, Sparse scalp hair, Prominent forehead, Pectus excavatum, Short nose, Anteverted nares, Intellectual disability, Macrotia, Low-set, posteriorly rotated ears, Low posterior hairline, Low-set ears, Short stature, Hearing impairment, Hypertelorism, Hypertrophic cardiomyopathy, Nasal speech, Hypoplastic toenails, Ichthyosis, Cognitive impairment, Hyperactivity, Hydrocephalus, Autosomal dominant inheritance, Posteriorly rotated ears, Short neck, Thin vermilion border, Webbed neck
How does someone get tested for Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
The initial testing for Noonan Syndrome-Like Disorder with Loose Anagen Hair 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 Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)
Hoban et al., (2012) reported an infant with features of Noonan syndrome, but with a severe hypertrophic cardiomyopathy and a SHOC2 mutation. Cordeddu et al., (2009) had previously reported the same, but with in addition the loose anagen hair syndrome.
Note that some patients with SHOC2 and PTPN11 mutations (Ekvall et al., 2011) can have a severe phenotype, but without a lethal cardiomyopathy.
Gripp et al., (2013) reported a new patient and review the condition. Their patient also had loose anagen hair syndrome and myelofibrosis. Four out of 4 have had to date a structural cardiac anomaly and 80% have had hypotonia and macrocephaly. Skin hyperpigmentation, sparse lightly coloured hair and increased fine skin wrinkles are common. There is also relative megalencephaly and a benign external hydrocephalus. Severe craniosynostosis was documented in the case reported by Takenouchi et al., (2014). Two further patients were reported by Baldassarre et al., (2014). There was extremely different phenotypic expression in the severity of the cardiac lesion and the intellectual disability.
* This information is courtesy of the L M D.
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