Paula and Bobby
Parents of Lillie
Bosma Arhinia Microphthalmia syndrome
What is Bosma Arhinia Microphthalmia syndrome?
This rare disease is a genetic condition currently diagnosed in less than 100 individuals worldwide.
The dominant features of this syndrome affect mainly the nose and ears of affected individuals.
It also can affect and delay the puberty of individuals with the condition.
This syndrome is also known as:
Arhinia, Choanal Atresia, and Microphthalmia BAMS
What gene changes cause Bosma Arhinia Microphthalmia syndrome?
Mutations to the SMCHD1 gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern.
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.
What are the main symptoms of Bosma Arhinia Microphthalmia syndrome?
One of the main symptoms of the condition is arhinia, which is the absence of an external nose. Individuals may be born with no nose or a very underdeveloped one. Individuals may also be affected by an absence of sinuses from behind the nose.
The syndrome also affects how the brain develops in regards to the olfactory bulb which provides our sense of smell. Individuals may have an underdeveloped or lacking sense of smell and taste.
Symptoms related to the eyes include very small or absent eyeballs which can lead to problems with vision and blindness. Cataracts are common in individuals with the syndrome.
A cleft or very high arched palate is also a common feature of the syndrome.
Individuals may also experience delayed puberty.
Possible clinical traits/features:
Malar flattening, Cryptorchidism, Abnormality of the sense of smell, Aplasia/Hypoplasia affecting the eye, Aplasia of the nose, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia involving the nose, Absent nares, Cataract, Choanal atresia, Cleft palate, Lacrimation abnormality, Microphthalmia, Iris coloboma, Visual impairment, Hyposmia, Hypertelorism, Gynecomastia, Hypoplasia of penis, Hypogonadism, Hernia of the abdominal wall, Reduced number of teeth
How does someone get tested for Bosma Arhinia Microphthalmia syndrome?
The initial testing for Bosma Arhinia Microphthalmia syndrome 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 Bosma Arhinia Microphthalmia syndrome
Two unrelated patients were reported by Gifford et al., (1972) and more fully by Bosma et al., (1981) with nasal hypoplasia, colobomata of the irides and cataracts. They were of normal intelligence. In addition they had inguinal hernias, hypogonadotrophic hypogonadism and an absence of the sensations of taste and smell. One had a cleft palate. No CT scans were reported and some of the features could be encompassed by the Kallman syndrome.
Two further, sporadic cases were reported by Graham and Lee (2006). Both had microphthalmia. One case had mid-facial hypoplasia, cryptorchidism, hypogonadism, inguinal hernias, and normal intelligence. The other case had colobomatous (iris and retina) microphthalmia, lens dislocation, a cleft uvula, a small phalus and testes, a preauricular pit, and absent olfactory bulbs. Intelligence was near normal.
Mischkowski and Kubler (2006) reported a case of congenital nasal hypoplasia, hypogonadism and anosmia (under the title of Kallmann syndrome) who might have this condition. The eyes were normal. The patient reported by Becerra-Solano et al., (2016) had arrhinia, anophthalmia, hypogonadism and mild intellectual delay.
Shaw et al. (2017) described 40 patients with arrhinia spectrum and missense mutations in exons 3 to 13 of the SMCHD1 gene. All patients had arrhinia accompanied with other craniofacial abnormalities including high-arched or cleft palate, absent paranasal sinuses, hypoplastic maxilla, nasolacrimal duct stenosis or atresia, and choanal atresia. In 41% of the patients dysmorphic pinnae or low-set ears were noted. Additional features included hypogonadotropic hypogonadism (in 97%). Ocular involvement included anophthalmia or microphthalmia (77%), uveal coloboma (79%) and cataract (53%). Brain MRI showed lacking olfactory structures. Bosma Arhinia Microphthalmia syndrome diagnostic criteria (ophthalmologic findings, hypogonadotropic hypogonadism and arrhinia) was met in 84% of the patients. One individual with paternally inherited SMCHD1 mutation was diagnosed with muscular dystrophy but had no craniofacial abnormalities.
* This information is courtesy of the L M D.
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