Boomerang Dysplasia

What is Boomerang Dysplasia?

Boomerang Dysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

This bone dysplasia has a characteristic appearance. A well ossified bone in the shape of a boomerang is seen in the position of the tibia. The femora, humeri and radii were absent in two cases (out of three) and the ulna on one occasion (Kozlowski et al., 1985). In the spine ossification is deficient, especially in the midline, and the metacarpals and proximal and middle phalanges might be similarly affected. The pelvis is characteristic, with large iliac wings, small iliac bodies and well developed ischial bones with absent pubic ossification centres.
Winship et al., (1990) presented a further case with a frontal encephalocele, and suggested that Piepkorn (1977) might be the same condition. Hunter and Carpenter (1991) suggest that it is reasonable to consider atelosteogenesis I and Boomerang Dysplasia as part of a spectrum, probably reflecting a common etiology. Greally et al., (1993) make the same point.
Slaney et al., (1993) reported an affected male and his maternal uncle. Reviewing the literature, they suggested X-linked inheritance for this condition. Nishimura et al., (1997) reported a male case with features of Oto-palato-digital syndrome type II, but with phenotypic overlap with Boomerang Dysplasia and the lethal male phenotype of Melnick-Needles syndrome.
Odent et al., (1999) reported a 24 week old fetus with features of the condition. They noted unusual lateral fan shaped diaphyseal ossification on histolopathological examination. Sillence et al., (1997) provides a good review of the atelosteogenesis/Boomerang Dysplasia spectrum of disorders.
Urioste et al., (1997) reported a male neonate with clinical features of Piepkorn (1977) syndrome (qv) but with multinucleated giant chondrocytes in cartilage. There seems to be overlap both with atelosteogenesis and Boomerang Dysplasia.
Wessels et al., (2003) reported a case diagnosed but ultrasound examination at 16 weeks gestation.
Giving the phenotypic overlap with disorders caused by filamin mutations Bicknell et al., (2005) checked this and found mutations in an unpublished patient and the fetus reported by Wessels et al. (2003).

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* This information is courtesy of the L M D.

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What gene changes cause Boomerang Dysplasia?

The syndrome is inherited in the following inheritance pattern/s:

X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

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 - 112310 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
FLNB - 3p14.3

What are the main symptoms of Boomerang Dysplasia?

The typical symptoms of the syndrome are:
Neonatal death, Abnormally ossified vertebrae, Abnormality of the humerus, Absent radius, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs, Abnormality of the metacarpal bones, Abnormality of the ulna, Abnormality of tibia morphology, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Wide nasal bridge, Polyhydramnios, Finger syndactyly, Fibular aplasia, Cryptorchidism, Severe short stature, Narrow chest, Abnormality of bone mineral density, Autosomal dominant inheritance, Omphalocele, Hypoplastic nasal septum, Hypoplastic iliac body, Underdeveloped nasal alae, Limb undergrowth, Hydrops fetalis

How does someone get tested for Boomerang Dysplasia?

The initial testing for Boomerang 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.

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