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Definition

A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Acronym

SRTD3

Synonyms

Asphyxiating thoracic dystrophy 3
ATD3
JATD
Jeune asphyxiating thoracic dystrophy
Jeune syndrome 3
Majewski syndrome
Polydactyly with neonatal chondrodystrophy type I
Polydactyly with neonatal chondrodystrophy type III
Saldino-Noonan syndrome
Short rib-polydactyly syndrome type I
Short rib-polydactyly syndrome type IIB
Short rib-polydactyly syndrome type III
SRPS1
SRPS2B
SRPS3
SRPS type IIB
SRPS type III
Verma-Naumoff syndrome

Keywords

Ciliopathy

 
Disclaimer

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