Short-rib thoracic dysplasia 3 with or without polydactyly

Preferred Label : Short-rib thoracic dysplasia 3 with or without polydactyly;

Symbol : SRTD3;

CISMeF acronym : ATD3; SRPS1; SRPS2B; SRPS3; SRTD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Short rib-polydactyly syndrome, type III; Polydactyly with neonatal chondrodystrophy, type I; Asphyxiating thoracic dystrophy 3; ATD3; Verma-naumoff syndrome; SRPS2B; Saldino-noonan syndrome; Short rib-polydactyly syndrome, type I; Polydactyly with neonatal chondrodystrophy, type III; SRPS1; SRPS3; Short rib-polydactyly syndrome, type iib;

Description : Asphyxiating thoracic dystrophy-3 is an autosomal recessive skeletal ciliopathy characterized mainly by small thorax due to shortened ribs, brachydactyly, and shortened long bones. Although short stature is present in childhood, most patients achieve normal height by adolescence or adulthood. The thoracic restriction also tends to improve with age. Unlike other forms of ATD, polydactyly is not usually seen, and extraskeletal manifestations, such as retinal, hepatic, renal, and pancreatic, are rare (summary by Schmidts et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of asphyxiating thoracic dystrophy, also known as Jeune syndrome, see 208500.;

Inheritance : Autosomal recessive; Digenic recessive;

Molecular basis : Caused by mutation in the dynein, cytoplasmic 2, heavy chain 1 gene (DYNC2H1, 603297.0001); Caused by simultaneous heterozygous mutation in both the never in mitosis gene A-related kinase 1 gene (NEK1, 604588.0003) and the dynein, cytoplasmic-2, heavy chain-1 gene (DYN2CH1, 603297.0016);

Laboratory abnormalities : Defect in retrograde intraflagellar transport in cilia;

Prefixed ID : #613091;

Details

Origin ID

613091;

UMLS CUI

C0036069;

Automatic exact mappings (from CISMeF team)
- Short rib-polydactyly syndrome, Verma-Naumoff type [ORDO Disease]
- short rib-polydactyly syndrome, Verma-Naumoff type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Saldino-Noonan syndrome [DO Concept]
- Saldino-Noonan syndrome [PASCAL descriptor]
- Saldino-Noonan syndrome [MeSH concept]
- Short-Rib Thoracic Dysplasia 3 with or without Polydactyly [NCIt concept]
- asphyxiating thoracic dystrophy 3 [DO Concept]
DO Cross reference
- asphyxiating thoracic dystrophy 3 [DO Concept]
Genes related to phenotype
- Dynein, cytoplasmic 2, heavy chain 1 [OMIM gene]
HPO term(s)
- Absent tibia [HPO term]
- Acetabular spurs [HPO term]
- Agenesis of corpus callosum [HPO term]
- Ambiguous genitalia [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid tongue [HPO term]
- Brachydactyly [HPO term]
- Cerebellar cyst [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cone-shaped epiphysis [HPO term]
- Digenic inheritance [HPO term]
- Enlarged kidney [HPO term]
- Femoral bowing [HPO term]
- Fibular hypoplasia [HPO term]
- Hamartoma of tongue [HPO term]
- Horizontal ribs [HPO term]
- Hypoplasia of the ulna [HPO term]
- Intestinal malrotation [HPO term]
- Lateral clavicle hook [HPO term]
- Metaphyseal spurs [HPO term]
- Metaphyseal widening [HPO term]
- Micropenis [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Postaxial polydactyly [HPO term]
- Preaxial polydactyly [HPO term]
- Renal dysplasia [HPO term]
- Scoliosis [HPO term]
- Short digit [HPO term]
- Short long bone [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic hypoplasia [HPO term]
ORDO concept(s)
- Jeune syndrome [ORDO Disease]
- Short rib-polydactyly syndrome, Majewski type [ORDO Disease]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ORDO Disease]
- Short rib-polydactyly syndrome, Verma-Naumoff type [ORDO Disease]
See also inter- (CISMeF)
- Short rib polydactyly syndrome type I (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Saldino-Noonan syndrome [MeSH concept]
- Saldino-Noonan syndrome [DO Concept]
- Saldino-Noonan syndrome [PASCAL descriptor]
- Short rib polydactyly syndrome type I (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ORDO Disease]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ICD-11 More detail]
- Short rib-polydactyly syndrome, non-Majewski type (disorder) [Inactive SNOMED CT concept]
- Short-Rib Thoracic Dysplasia 3 with or without Polydactyly [NCIt concept]
- asphyxiating thoracic dystrophy 3 [DO Concept]
- short rib-polydactyly syndrome, non-majewski type [SNOMED Notion]
Validated automatic mappings to NTBT
- short rib-polydactyly syndrome [MeSH Descriptor]

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