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Boomerang dysplasia(BOOMD)

MedGen UID:
96579
Concept ID:
C0432201
Disease or Syndrome
Synonyms: Boomerang-like skeletal dysplasia; Dwarfism with short, bowed, rigid limbs and characteristic facies
SNOMED CT: Boomerang dysplasia (254054000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): FLNB (3p14.3)
 
Monarch Initiative: MONDO:0007208
OMIM®: 112310
Orphanet: ORPHA1263

Disease characteristics

Excerpted from the GeneReview: FLNB Disorders
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic. [from GeneReviews]
Authors:
Stephen Robertson   view full author information

Additional descriptions

From OMIM
Boomerang dysplasia (BOOMD) is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae (summary by Bicknell et al., 2005).  http://www.omim.org/entry/112310
From MedlinePlus Genetics
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.

Some individuals with boomerang dysplasia have a sac-like protrusion of the brain (encephalocele). They may also have an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Affected individuals typically have a distinctive nose that is broad with very small nostrils and an underdeveloped partition between the nostrils (septum).

Individuals with boomerang dysplasia typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.  https://medlineplus.gov/genetics/condition/boomerang-dysplasia

Clinical features

From HPO
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absence of the fibula.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Hypoplastic iliac body
MedGen UID:
376500
Concept ID:
C1849034
Finding
Underdevelopment of the body of ilium.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Hypoplastic nasal septum
MedGen UID:
348327
Concept ID:
C1861328
Finding
Underdevelopment of the nasal septum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBoomerang dysplasia
Follow this link to review classifications for Boomerang dysplasia in Orphanet.

Recent clinical studies

Etiology

Xu Q, Wu N, Cui L, Wu Z, Qiu G
J Genet Genomics 2017 Jul 20;44(7):335-342. Epub 2017 Jul 6 doi: 10.1016/j.jgg.2017.04.007. PMID: 28739045
Odent S, Loget P, Le Marec B, Delezoïde AL, Maroteaux P
J Med Genet 1999 Apr;36(4):330-2. PMID: 10227404Free PMC Article
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
Pediatr Radiol 1997 May;27(5):388-96. doi: 10.1007/s002470050154. PMID: 9133349

Diagnosis

Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM
Pediatr Radiol 2020 Feb;50(2):224-233. Epub 2019 Nov 27 doi: 10.1007/s00247-019-04537-8. PMID: 31776601
Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM
Clin Genet 2018 Jul;94(1):159-164. Epub 2018 Apr 14 doi: 10.1111/cge.13252. PMID: 29566257
Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ
Am J Med Genet A 2003 Oct 1;122A(2):148-54. doi: 10.1002/ajmg.a.20239. PMID: 12955767
Bejjani BA, Oberg KC, Wilkins I, Moise A, Langston C, Superti-Furga A, Lupski JR
Am J Med Genet 1998 Oct 12;79(5):392-5. PMID: 9779808
Winship I, Cremin B, Beighton P
Am J Med Genet 1990 Aug;36(4):440-3. doi: 10.1002/ajmg.1320360413. PMID: 2202214

Prognosis

S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H
Molecules 2020 Nov 26;25(23) doi: 10.3390/molecules25235543. PMID: 33255942Free PMC Article
Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM
Pediatr Radiol 2020 Feb;50(2):224-233. Epub 2019 Nov 27 doi: 10.1007/s00247-019-04537-8. PMID: 31776601
Rehder H, Laccone F, Kircher SG, Schild RL, Rapp C, Bald R, Schulze B, Behunova J, Neesen J, Schoner K
Am J Med Genet A 2018 Jul;176(7):1559-1568. Epub 2018 May 23 doi: 10.1002/ajmg.a.38828. PMID: 29797497Free PMC Article
Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H
Fetal Diagn Ther 2012;32(3):216-20. Epub 2012 Feb 18 doi: 10.1159/000335687. PMID: 22354125
Bejjani BA, Oberg KC, Wilkins I, Moise A, Langston C, Superti-Furga A, Lupski JR
Am J Med Genet 1998 Oct 12;79(5):392-5. PMID: 9779808

Clinical prediction guides

S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H
Molecules 2020 Nov 26;25(23) doi: 10.3390/molecules25235543. PMID: 33255942Free PMC Article
Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H
Fetal Diagn Ther 2012;32(3):216-20. Epub 2012 Feb 18 doi: 10.1159/000335687. PMID: 22354125
Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V
Hum Mol Genet 2007 Jul 15;16(14):1661-75. Epub 2007 May 17 doi: 10.1093/hmg/ddm114. PMID: 17510210
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
Pediatr Radiol 1997 May;27(5):388-96. doi: 10.1007/s002470050154. PMID: 9133349

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