Paula and Bobby
Parents of Lillie
What is Acromicric Dysplasia?
Acromicric Dysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This condition is very similar to the condition known as Moore-Federman dwarfism, and the main diagnostic features are short stature, which is noted after the age of 2 years, and striking 'stockiness' of the hands and feet. The facial features are subtle, but the palpebral fissures are narrow, the cheeks are full and the nose is stubby with anteverted nostrils. Radiologically the metacarpals are short (especially 2-5). There are cone-shaped epiphyses and a delay in bone maturation. The first and second phalanges are short and broad. Histology of the cartilage shows a disorganization of the growth zone with islands of cells (some degenerated) and abnormal organization of collagen. There is an accumulation of glycogen in most chondrocytes (Maroteaux et al,. 1986). Faivre et al., (2001) provide a good review and information about long term outcome. Mean adult height is 133cm in males and 129cm in females. Intelligence is normal. The authors note well-developed muscles, a hoarse voice, generalised joint limitation, frequent ear, tracheal and respiratory complications and kyphoscoliosis or lordosis as additional features. Refraction defects were common, including both hypermetropia, myopia, and astigmatism. Other occasional features include ASD, bicuspid aortic valve, carpal tunnel syndrome, Brown syndrome, and pulmonary hypertension, autoimmune diabetes, hepatitis, delayed puberty and precocious puberty in single cases. Radiologically the metacarpals are short, especially 2-, and 5 and there is an internal notch of the second metacarpal and an external notch of the fifth metacarpal.
There is marked similarity to Moore-Federmann syndrome (Winter et al., 1989). Hennekam et al., (1996) discuss the differential diagnosis between Acromicric Dysplasia, Moore-Federmann syndrome, and geleophysic dysplasia. In an addendum, Maroteaux et al. (1986) say that they have observed Acromicric Dysplasia in a mother and son. Faivre et al., (2001) reported six cases of vertical transmission from a series of 22 cases.
Interestingly, a mutation in FBN1 the gene involved in Marfan syndrome (tall stature, arachnodactyly) has been shown to interact with ADAMTSL2 and cause Geleophysic and acromicric dysplasias (Le Goff et al., 2011). FBN1 mutations also cause Weil-Marchesani.
NB: there are families with FBN1 exons 41 and 42 mutations who have Weill-Marchsani but who have an overlap with Marfan syndrome (Cecchi et al., 2013). These same authors reported a case with acute thoraci aorta dissection - also caused by exon 41 and 42 heterozygous mutations. All patiens with these mutations (which includes Acromicric Dysplasia and geleophysic dysplasia) should be tested fot thoracic dissections and ectopia lentis
De Bruin et al. (2016), described two unrelated patients with short stature and an overlapping characteristics of Acromicric Dysplasia and geleophysic dysplasia. Both patients had the same heterozygous missense variant c.C5183T (p.Ala1728Val) in the FBN1 gene. The patients showed disproportionate severe short stature, short hands, and delayed bone age. They had normal development milestones. Dysmorphic features included a slightly broad nasal bridge, a bulbous nose with a prominent philtrum and thick lips. Their skeletal surveys were normal except for mild hip dysplasia. Classical signs of acromelic dysplasia were lacking, specifically there was no round face, prominent eyebrows, elongation of the eyelashes or small mouth. None of the patients had cardiac pathology as previously reported in patient carrying the same FBN1 mutation. Both patients were treated with growth hormone, one of them having no significant response.
* This information is courtesy of the L M D.
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What gene changes cause Acromicric Dysplasia?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - 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.
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 - 102370 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
FBN1 - 15q21.1
ADAMTSL2 - 9q34.2
SMAD2 - 18q21.1
TGFB1 - 19q13.2
LTBP3 - 11q13.1
What are the main symptoms of Acromicric Dysplasia?
The typical symptoms of the syndrome are:
Autosomal dominant inheritance, Ovoid vertebral bodies, Hoarse voice, Short foot, Short phalanx of finger, Thick lower lip vermilion, Round face, Short palm, Short metacarpal, Short long bone, Cone-shaped epiphysis, Thickened skin, Brachydactyly, Severe short stature, Fifth metacarpal with ulnar notch, Delayed skeletal maturation, Deep philtrum, Decreased nerve conduction velocity, Limitation of joint mobility, Long eyelashes, Long philtrum, Narrow mouth, Short nose, Anteverted nares, Abnormality of femur morphology, Abnormality of the eye, Bulbous nose
How does someone get tested for Acromicric Dysplasia?
The initial testing for Acromicric Dysplasia 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.
What is FDNA Telehealth?
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