Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short-rib thoracic dysplasia with or without polydactyly

Short-rib thoracic dysplasia with or without polydactyly is a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
Cranioectodermal dysplasia
Joubert syndrome
Leber congenital amaurosis
Left-right axis malformations
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Short-rib thoracic dysplasia with or without polydactyly 01
Short-rib thoracic dysplasia with or without polydactyly 02
IFT80
Short-rib thoracic dysplasia with or without polydactyly 03
DYNC2H1
Short-rib thoracic dysplasia with or without polydactyly 04
TTC21B
Short-rib thoracic dysplasia with or without polydactyly 05
WDR19
Short-rib thoracic dysplasia with or without polydactyly 06
NEK1
Short-rib thoracic dysplasia with or without polydactyly 07
WDR35
Short-rib thoracic dysplasia with or without polydactyly 08
WDR60
Short-rib thoracic dysplasia with or without polydactyly 09
IFT140
Short-rib thoracic dysplasia with or without polydactyly 10
IFT172
Short-rib thoracic dysplasia with or without polydactyly 11
WDR34
Short-rib thoracic dysplasia with or without polydactyly 12
Short-rib thoracic dysplasia with or without polydactyly 13
CEP120
Short-rib thoracic dysplasia with or without polydactyly 14
KIAA0586
Short-rib thoracic dysplasia with or without polydactyly 15
DYNC2LI1
Short-rib thoracic dysplasia with or without polydactyly 16
IFT52
Short-rib thoracic dysplasia with or without polydactyly 17
TCTEX1D2
Short-rib thoracic dysplasia with or without polydactyly 18
IFT43
Short-rib thoracic dysplasia with or without polydactyly 19
IFT81
Simpson-Golabi-Behmel syndrome

References:

1.

El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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2.

Merrill AE et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

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3.

Dagoneau N et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

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4.

Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

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5.

Schmidts M et al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

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6.

Duran I et al. (2016) Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

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7.

Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

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8.

Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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9.

Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

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10.

Zhang W et al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

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11.

Huber C et al. (2012) Ciliary disorder of the skeleton.

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12.

Balci S et al. (1991) Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

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13.

None (1988) A lethal short rib syndrome without polydactyly.

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14.

None (1983) Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly.

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15.

Beemer FA et al. (1983) A new short rib syndrome: report of two cases.

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16.

None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.

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17.

Cideciyan D et al. (1993) New findings in short rib syndrome.

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18.

Elçioğlu N et al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.

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19.

Kovács N et al. (2006) High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.

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20.

Hanissian AS et al. (1967) Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

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21.

None (1980) Renal lesion in Jeune's syndrome.

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22.

Landing BH et al. (1980) Morphometric analysis of liver lesions in cystic diseases of childhood.

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23.

Zack P et al. (1995) Spondyloenchondromatosis: syndromic identity and evolution of the phenotype.

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24.

Takada F et al. (1994) Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl.

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25.

Labrune P et al. (1999) Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

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26.

Kajantie E et al. (2001) Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care.

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27.

Morgan NV et al. (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.

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28.

JEUNE M et al. (1955) [Asphyxiating thoracic dystrophy with familial characteristics].

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29.

MAROTEAUX P et al. (1964) [ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME].

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30.

Lehman AM et al. (2010) Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

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31.

Elçioglu NH et al. (2002) Diagnostic dilemmas in the short rib-polydactyly syndrome group.

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32.

Takamine Y et al. (2004) Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.

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33.

Wikipedia article

Wikipedia EN (Asphyxiating_thoracic_dysplasia) [^]
Update: April 29, 2019